MDA - Peripheral Neuropathieshttp://www.mda.org/disease-name/peripheral-neuropathies
enNew Forms of Genetic Testing Improve Diagnosis, Raise Questionshttp://www.mda.org/quest/new-forms-genetic-testing-improve-diagnosis-raise-questions
<div class="field field-name-body field-type-text-with-summary field-label-hidden"><div class="field-items"><div class="field-item even" property="content:encoded"><p>“Knowing, if not all, is almost all,” said Matthew Harms, a neurologist and neurophysiologist from Washington University in St. Louis, in his presentation on genetic testing for neuromuscular disorders at the <a href="http://mda.org/2014ClinicalConference/overview" target="_blank">2014 MDA Clinical Conference</a>, held in Chicago March 16-19.</p>
<p>“Molecular diagnosis matters,” Harms said. “We must come to molecular diagnosis as the availability of molecularly based treatments increases.” He said genetic (also called “DNA-based,” or “molecular”) diagnosis brings closure to families and “names the enemy they are fighting.”</p>
<p>However, he said, new types of genetic testing also make genetic counseling more complicated; require that professionals learn more about the implications of each genetic mutation they identify in patients; raise questions about what to do with unexpected, or “incidental,” findings not related to the initial diagnostic process; and may not detect all disease-causing mutations.</p>
<p>Current approaches to genetic diagnosis, Harms explained, are based on a directed search for possible or probable genetic mutations that doctors believe could underlie the signs and symptoms they see in a patient through taking a history and conducting a physical examination and non-genetic tests, such as those measuring the speed and strength of nerve-to-muscle signals. This is a useful approach, Harms said, but one that “often falls short.”</p>
<p>To illustrate his point, he described a patient who was thought to have <a href="http://mda.org/disease/charcot-marie-tooth/cmt1-cmt2" target="_blank"><strong>type 2</strong> <strong>Charcot-Marie-Tooth disease</strong></a> but in whom no molecular diagnosis could be made after extensive testing for the known mutations for this condition. Ultimately, the patient underwent a new type of testing known as <em>exome</em> <em>sequencing</em>, in which all <em>exons</em> — the parts of the human genome that directly code for proteins — were examined. Two mutations were found in a gene underlying a rare neuromuscular disorder that had not originally been on the list of suspected conditions.</p>
<p>Exome sequencing can now be done for about $900, Harms said, which is considered affordable in many settings. However, it has limitations, Harms cautioned. It does not, for instance, find potentially significant mutations that are in <em>introns</em>, the parts of genes between exons that do not directly code for proteins. Nor does it find abnormally expanded sections of DNA, such as those that cause <a href="http://mda.org/disease/myotonic-muscular-dystrophy/overview" target="_blank"><strong>type 1 myotonic dystrophy (MMD1, or DM1)</strong></a> and one form of <a href="http://mda.org/disease/amyotrophic-lateral-sclerosis/overview" target="_blank"><strong>amyotrophic lateral sclerosis (ALS)</strong></a>; or variations in the number of copies of a gene, an important factor in predicting the likely severity of <a href="http://mda.org/disease/spinal-muscular-atrophy/overview" target="_blank"><strong>spinal muscular atrophy (SMA)</strong></a>.</p>
<p>We are on the threshold of newer forms of sequencing that can routinely examine the entire genome — <em>genome sequencing</em> — Harms said. This strategy, rapidly evolving so that it can be used more broadly than it is now, can detect more types of mutations but will be expensive.</p>
<p class="article-subhead">Need to raise ‘genetic literacy’</p>
<p>Harms said that forms of genetic testing that scan entire genomes or exomes have already taught us to question our assumptions about genetic disorders and that newer forms of testing will be even more challenging. We have already learned, he said, that symptoms that can arise from a particular genetic mutation are much broader than had been anticipated; that there are more genes out there that cause disease than had been thought; that patients with multiple disease-causing mutations are not as rare as has been believed; and that understanding of genetics, even by professionals, is incomplete.</p>
<p>Mutations that are thought to be harmful sometimes turn out not to be, he said; while those that are thought not be harmful sometimes are. “Clarity will only come from collaboration as physicians,” he said. “Genomic literacy has to be raised, in ourselves and in our patients.”</p>
<p class="article-subhead">Panel discussion raised questions</p>
<p>A lively panel discussion followed Harms’ presentation. In addition to Harms, the panel included geneticist <a href="http://mda.org/research/gaag/gaag/2012/summer/cmd-madhuri-hegde-phd" target="_blank">Madhuri Hegde</a>, a geneticist and MDA research grantee at Emory University in Atlanta; Carly Siskind, a genetic counselor at Stanford (Calif.) University; and neurologist Jerry Mendell, a longtime MDA research grantee and co-director of the MDA Clinic at Nationwide Children’s Hospital in Columbus, Ohio.</p>
<p>Among the important questions raised by this panel and by the audience included:</p>
<ul><li>How should information that is found in genome or exome sequencing that does not relate to diagnosis of the sought-after neuromuscular disorder be handled? Should it be relayed to the family?</li>
<li>How should information of unknown significance be handled?</li>
<li>Since many more genetic mutations will be identified using newer methods than earlier approaches, will many people be barred from obtaining life insurance or long-term care insurance? Does this need to be considered when molecular diagnostic testing is ordered?</li>
<li>Is it in the best interests of a child who does not yet have symptoms of a genetic disorder to carry the label of a genetic disorder?</li>
<li>Testing DNA from a particular tissue, such as blood or saliva, may not give information about DNA variations found in other tissues, which is known to occur and to have significance in some neuromuscular disorders. How does one deal with that “murky” situation?</li>
<li>How do we deal with the shortage of genetic counselors now in practice?</li>
</ul><p>None of these questions has a clear answer, although there seemed to be consensus that we need clear consent forms for patients and their parents; that we need more genetic counselors; that the level of knowledge of genetics and its role in disease must be raised for all professionals who are involved with patients; and that cost-benefit calculations must be made for genetic testing.</p>
</div></div></div><div class="field field-name-field-article-disease field-type-taxonomy-term-reference field-label-above"><div class="field-label">Disease:&nbsp;</div><div class="field-items"><div class="field-item even"><a href="/disease-name/myotonic-muscular-dystrophy-mmd" typeof="skos:Concept" property="rdfs:label skos:prefLabel" datatype="">Myotonic Muscular Dystrophy (MMD)</a></div><div class="field-item odd"><a href="/disease-name/limb-girdle-muscular-dystrophy-lgmd" typeof="skos:Concept" property="rdfs:label skos:prefLabel" datatype="">Limb-Girdle Muscular Dystrophy (LGMD)</a></div><div class="field-item even"><a href="/disease-name/emery-dreifuss-muscular-dystrophy-edmd" typeof="skos:Concept" property="rdfs:label skos:prefLabel" datatype="">Emery-Dreifuss Muscular Dystrophy (EDMD)</a></div><div class="field-item odd"><a href="/disease-name/facioscapulohumeral-muscular-dystrophy-fsh-or-fshd" typeof="skos:Concept" property="rdfs:label skos:prefLabel" datatype="">Facioscapulohumeral Muscular Dystrophy (FSH or FSHD)</a></div><div class="field-item even"><a href="/disease-name/oculopharyngeal-muscular-dystrophy-opmd" typeof="skos:Concept" property="rdfs:label skos:prefLabel" datatype="">Oculopharyngeal Muscular Dystrophy (OPMD)</a></div><div class="field-item odd"><a href="/disease-name/distal-muscular-dystrophy-dd" typeof="skos:Concept" property="rdfs:label skos:prefLabel" datatype="">Distal Muscular Dystrophy (DD)</a></div><div class="field-item even"><a href="/disease-name/duchenne-muscular-dystrophy-dmd" typeof="skos:Concept" property="rdfs:label skos:prefLabel" datatype="">Duchenne Muscular Dystrophy (DMD)</a></div><div class="field-item odd"><a href="/disease-name/congenital-muscular-dystrophy-cmd" typeof="skos:Concept" property="rdfs:label skos:prefLabel" datatype="">Congenital Muscular Dystrophy (CMD)</a></div><div class="field-item even"><a href="/disease-name/becker-muscular-dystrophy-bmd" typeof="skos:Concept" property="rdfs:label skos:prefLabel" datatype="">Becker Muscular Dystrophy (BMD)</a></div><div class="field-item odd"><a href="/disease-name/congenital-myasthenic-syndromes-cms" typeof="skos:Concept" property="rdfs:label skos:prefLabel" datatype="">Congenital Myasthenic Syndromes (CMS)</a></div><div class="field-item even"><a href="/disease-name/myotubular-myopathy-mtm-or-mm" typeof="skos:Concept" property="rdfs:label skos:prefLabel" datatype="">Myotubular Myopathy (MTM or MM)</a></div><div class="field-item odd"><a href="/disease-name/myotonia-congenita-mc" typeof="skos:Concept" property="rdfs:label skos:prefLabel" datatype="">Myotonia Congenita (MC)</a></div><div class="field-item even"><a href="/disease-name/central-core-disease-ccd" typeof="skos:Concept" property="rdfs:label skos:prefLabel" datatype="">Central Core Disease (CCD)</a></div><div class="field-item odd"><a href="/disease-name/nemaline-myopathy" typeof="skos:Concept" property="rdfs:label skos:prefLabel" datatype="">Nemaline Myopathy</a></div><div class="field-item even"><a href="/disease-name/periodic-paralysis" typeof="skos:Concept" property="rdfs:label skos:prefLabel" datatype="">Periodic Paralysis</a></div><div class="field-item odd"><a href="/disease-name/paramyotonia-congenita" typeof="skos:Concept" property="rdfs:label skos:prefLabel" datatype="">Paramyotonia Congenita</a></div><div class="field-item even"><a href="/disease-name/peripheral-neuropathies" typeof="skos:Concept" property="rdfs:label skos:prefLabel" datatype="">Peripheral Neuropathies</a></div><div class="field-item odd"><a href="/disease/friedreich%E2%80%99s-ataxia-fa" typeof="skos:Concept" property="rdfs:label skos:prefLabel" datatype="">Friedreich’s Ataxia (FA)</a></div><div class="field-item even"><a href="/disease-name/dejerine-sottas-disease-dsd" typeof="skos:Concept" property="rdfs:label skos:prefLabel" datatype="">Dejerine-Sottas Disease (DSD)</a></div><div class="field-item odd"><a href="/disease-name/charcot-marie-tooth-disease-cmt" typeof="skos:Concept" property="rdfs:label skos:prefLabel" datatype="">Charcot-Marie-Tooth Disease (CMT)</a></div><div class="field-item even"><a href="/disease-name/endocrine-myopathies" typeof="skos:Concept" property="rdfs:label skos:prefLabel" datatype="">Endocrine Myopathies</a></div><div class="field-item odd"><a href="/disease-name/hypothyroid-myopathy" typeof="skos:Concept" property="rdfs:label skos:prefLabel" datatype="">Hypothyroid Myopathy</a></div><div class="field-item even"><a href="/disease-name/hyperthyroid-myopathy" typeof="skos:Concept" property="rdfs:label skos:prefLabel" datatype="">Hyperthyroid Myopathy</a></div><div class="field-item odd"><a href="/disease-name/metabolic-diseases-muscle" typeof="skos:Concept" property="rdfs:label skos:prefLabel" datatype="">Metabolic Diseases of Muscle</a></div><div class="field-item even"><a href="/disease-name/mitochondrial-myopathy" typeof="skos:Concept" property="rdfs:label skos:prefLabel" datatype="">Mitochondrial Myopathy</a></div><div class="field-item odd"><a href="/disease-name/lactate-dehydrogenase-deficiency" typeof="skos:Concept" property="rdfs:label skos:prefLabel" datatype="">Lactate Dehydrogenase Deficiency</a></div><div class="field-item even"><a href="/disease-name/debrancher-enzyme-deficiency" typeof="skos:Concept" property="rdfs:label skos:prefLabel" datatype="">Debrancher Enzyme Deficiency</a></div><div class="field-item odd"><a href="/disease-name/carnitine-palmityl-transferase-deficiency" typeof="skos:Concept" property="rdfs:label skos:prefLabel" datatype="">Carnitine Palmityl Transferase Deficiency (CPT Deficiency)</a></div><div class="field-item even"><a href="/disease-name/carnitine-deficiency" typeof="skos:Concept" property="rdfs:label skos:prefLabel" datatype="">Carnitine Deficiency</a></div><div class="field-item odd"><a href="/disease-name/acid-maltase-deficiency-amd" typeof="skos:Concept" property="rdfs:label skos:prefLabel" datatype="">Acid Maltase Deficiency (AMD)</a></div><div class="field-item even"><a href="/disease/phosphorylase-deficiency" typeof="skos:Concept" property="rdfs:label skos:prefLabel" datatype="">Phosphorylase Deficiency</a></div><div class="field-item odd"><a href="/disease-name/myoadenylate-deaminase-deficiency" typeof="skos:Concept" property="rdfs:label skos:prefLabel" datatype="">Myoadenylate Deaminase Deficiency</a></div><div class="field-item even"><a href="/disease-name/phosphoglycerate-mutase-deficiency" typeof="skos:Concept" property="rdfs:label skos:prefLabel" datatype="">Phosphoglycerate Mutase Deficiency</a></div><div class="field-item odd"><a href="/disease-name/phosphoglycerate-kinase-deficiency" typeof="skos:Concept" property="rdfs:label skos:prefLabel" datatype="">Phosphoglycerate Kinase Deficiency</a></div><div class="field-item even"><a href="/disease-name/phosphofructokinase-deficiency" typeof="skos:Concept" property="rdfs:label skos:prefLabel" datatype="">Phosphofructokinase Deficiency</a></div><div class="field-item odd"><a href="/disease-name/motor-neuron-diseases" typeof="skos:Concept" property="rdfs:label skos:prefLabel" datatype="">Motor Neurone Disease</a></div><div class="field-item even"><a href="/disease-name/spinal-muscular-atrophy-sma" typeof="skos:Concept" property="rdfs:label skos:prefLabel" datatype="">Spinal Muscular Atrophy (SMA)</a></div><div class="field-item odd"><a href="/taxonomy/term/76" typeof="skos:Concept" property="rdfs:label skos:prefLabel" datatype="">Amyotrophic Lateral Sclerosis (ALS)</a></div><div class="field-item even"><a href="/disease/lou-gehrig%E2%80%99s-disease-amyotrophic-lateral-sclerosis" typeof="skos:Concept" property="rdfs:label skos:prefLabel" datatype="">Lou Gehrig’s Disease (Amyotrophic Lateral Sclerosis)</a></div><div class="field-item odd"><a href="/disease-name/spinal-bulbar-muscular-atrophy-sbma" typeof="skos:Concept" property="rdfs:label skos:prefLabel" datatype="">Spinal-Bulbar Muscular Atrophy (SBMA)</a></div></div></div><div class="field field-name-field-article-link field-type-link-field field-label-above"><div class="field-label">Link:&nbsp;</div><div class="field-items"><div class="field-item even"><a href="http://quest.mda.org/news/new-forms-genetic-testing-improve-diagnosis-raise-questions">New Forms of Genetic Testing Improve Diagnosis, Raise Questions</a></div></div></div><div class="field field-name-field-guid field-type-number-integer field-label-above"><div class="field-label">GUID:&nbsp;</div><div class="field-items"><div class="field-item even">23 041</div></div></div><div class="field field-name-field-quest-thumbnail-url field-type-text field-label-above"><div class="field-label">Thumbnail:&nbsp;</div><div class="field-items"><div class="field-item even">/sites/default/files/2014_clinical_conference_tuesday_700x450.jpg</div></div></div><div class="field field-name-field-article-tags field-type-taxonomy-term-reference field-label-above"><div class="field-label">Tags:&nbsp;</div><div class="field-items"><div class="field-item even"><a href="/disease/topic/diagnosis" typeof="skos:Concept" property="rdfs:label skos:prefLabel" datatype="">diagnosis</a></div><div class="field-item odd"><a href="/disease/topic/overview" typeof="skos:Concept" property="rdfs:label skos:prefLabel" datatype="">overview</a></div></div></div>Fri, 28 Mar 2014 17:57:00 +0000jcook@mdausa.org269661 at http://www.mda.orgMDA Awards $8.5 Million to 31 Neuromuscular Disease Research Projectshttp://www.mda.org/quest/mda-awards-85-million-31-neuromuscular-disease-research-projects
<div class="field field-name-body field-type-text-with-summary field-label-hidden"><div class="field-items"><div class="field-item even" property="content:encoded"><p>In its summer 2013 round of research grant awards, the Muscular Dystrophy Association aims to catalyze research progress in a dozen neuromuscular diseases, with an eye toward applying that knowledge to related muscle diseases, as well.</p>
<p>“A large number of our grants are investigating new therapeutic technologies,” notes Jane Larkindale, MDA's vice president of research. “These are 'platform' technologies, where successes can be transferred well beyond the specific disease in which they are developed and tested.”</p>
<p>The 31 new grants, totaling $8.5 million, were approved by MDA’s Board of Directors in July and took effect Aug. 1. The grants can be viewed in the <a href="http://mda.org/research/gaag/2013/summer" target="_blank">Summer 2013 Grants at a Glance slideshow</a><span class="article-subhead"> </span>and links to individual grant descriptions (as well as to background materials) are included in the descriptions below</p>
<p><span class="article-subhead">Disease-specific grants</span></p>
<p><a href="http://mda.org/disease/inherited-and-endocrine-myopathies/central-core-disease" target="_blank"><strong>Central core disease (CCD)</strong></a></p>
<p>As science advances, new opportunities often arise to make progress in diseases that previously had stymied researchers. That’s the case in CCD. MDA is taking advantage of scientific advances in technology to fund three new grants that will better define the fundamental <a href="/article/getting-core-ccd" target="_self">problems in CCD</a>, and provide insights into new treatment targets.</p>
<ul><li>Scientists at the University of Colorado, Denver, are performing basic research to define the <a href="http://mda.org/research/gaag/ccd-kurt-beam-phd" target="_blank">interaction of two proteins critical for muscle function</a> — the dihydropyridine receptor, which “senses” the electrical signal from a nerve, and the ryanodine receptor, which controls the release of calcium ions to stimulate muscle contraction. Mutations in either one lead to CCD, as well as increase the risk of experiencing malignant hyperthermia, a potentially fatal reaction to certain anesthetic drugs. A better understanding of those interactions can help identify targets for experimental treatments in CCD.</li>
<li>Researchers at the University of California, Los Angeles, are looking at the interactions of mutated and normal proteins in animal models, to better understand <a href="http://mda.org/research/gaag/ccd-julio-vergara-phd" target="_blank">how mutation leads to disease symptoms</a>.</li>
<li>Scientists at the University of Rochester are studying calcium handling in the disease, and test <a href="http://mda.org/research/gaag/ccd-robert-dirksen-phd" target="_blank">potential drugs to normalize calcium release</a>.</li>
</ul><p><a href="http://mda.org/disease/charcot-marie-tooth/overview" target="_blank"><strong>Charcot-Marie-Tooth disease (CMT)</strong></a></p>
<p>CMT is a group of more than 30 diseases, all affecting peripheral nerves (those outside of the brain and spinal cord). Each form is caused by a different gene. However, while many genetic anomalies cause the disease, every case ends with damage to the same peripheral nerves.</p>
<p>Three new MDA grants support progress in understanding several of the rarer forms of CMT:</p>
<ul><li>Researchers at the Cyprus Institute of Neurology and Genetics in Cyprus are working to develop <a href="http://mda.org/research/gaag/cmt-kleopas-kleopa-md" target="_blank">gene therapy for X-linked CMT (CMTX1)</a>, which is caused by mutations in a gene for a protein called <em>connexin 32</em>.</li>
<li>Researchers at Johns Hopkins University are studying <a href="http://mda.org/research/gaag/cmt-charlotte-sumner-md" target="_blank">type 2C CMT (CMT2C)</a>, which is caused by mutations in a gene called <em>TRPV4</em> that helps control the flow of calcium in and out of cells.</li>
<li>Researchers at the University of Texas are studying the <a href="http://mda.org/research/gaag/cmt-peter-hiesinger-phd" target="_blank">effects of mutation of the <em>rab7 gene</em></a> in the 2B form (CMT2B). </li>
</ul><p><a href="http://mda.org/disease/duchenne-muscular-dystrophy/overview" target="_blank"><strong>Duchenne muscular dystrophy (DMD)</strong></a></p>
<p>Gene editing is a strategy that targets the mutant sequence in the dystrophin gene that causes DMD, and harnesses elements of the cell’s own “quality control” system to correct the mutation. If successful, gene editing could replace the standard gene therapy approach of supplying a new gene. (For background information about two approaches to gene editing, see <a href="/news/dmd-permanent-gene-repair-strategy-looks-good-lab" target="_self">DMD: 'Permanent' Gene Repair Strategy Looks Good in Lab</a> and <a href="/news/dmd-gene-repair-strategy-takes-big-step-forward" target="_self">DMD Gene Repair Strategy Takes Big Step Forward</a>.)</p>
<p>Two new grants, to researchers at the University of California, Los Angeles, and Duke University, seek to advance gene editing strategies for DMD (see <a href="http://mda.org/research/gaag/dmd-carmen-bertoni-phd" target="_blank">Carmen Bertoni</a> and <a href="http://mda.org/research/gaag/dmd-charles-gersbach-phd" target="_blank">Charles Gersbach</a> grants).</p>
<p>Lessons learned in these gene editing studies will have implications for virtually all neuromuscular diseases, since most are caused by a defective gene.</p>
<p><span style="background-color: #ffff00;"></span><a class="definition" title="strategy that coaxes cells to skip over a targeted exon (section of genetic code) and restore the genetic reading frame" href="/article/exon-skipping-dmd-what-it-and-whom-can-it-help" target="_self">Exon skipping</a> for DMD is another therapeutic approach that has the potential to be effective against other neuromuscular diseases. Like gene editing, this approach doesn't rely on supplying a new gene, but rather works to make the existing gene more functional.</p>
<p><a href="/article/snapshot-view-drisapersen-and-eteplirsen-chart" target="_self">Exon-skipping compounds</a> designed to address the most common DMD mutation (exon 51) are showing encouraging results in current clinical trials. As those trials continue, researchers in Murdoch, Australia, have received a new MDA grant to develop exon-skipping compounds for <a href="http://mda.org/research/gaag/dmd-steve-wilton-phd" target="_blank">less common mutations</a> in order to have those treatments ready to test pending the outcome of the exon 51 trials.</p>
<p>Other DMD-targeted grants focus on:</p>
<ul><li><strong>The heart muscle in DMD.</strong> University of Washington/Seattle researchers are exploring strategies to <a href="http://mda.org/research/gaag/dmd-morayma-reyes-md-phd" target="_blank">reduce inflammation of the heart muscle</a> as a way to reduce development of fibrous tissue within the heart. Another Seattle group, at the Fred Hutchinson Cancer Research Center, will pursue <a href="http://mda.org/research/gaag/dmd-zejing-wang-md-phd" target="_blank">gene therapy for heart disease</a> (<em>cardiomyopathy</em>) in DMD.</li>
<li><strong>Reduction of immune response to gene therapy.</strong> University of Pennsylvania researchers are studying the very <a href="http://mda.org/research/gaag/dmd-hansell-stedman-md" target="_blank">earliest phases of the immune response</a>, with the aim of reducing inflammation and improving the chances for successful gene therapy.</li>
<li><strong>Understanding muscle repair.</strong> Scientists at Duke University are studying <a href="http://mda.org/research/gaag/dmd-moon-chang-choi-phd" target="_blank">muscle stem cells</a>, called <em>satellite cells</em>, to determine the best way to increase their activity in replacing muscle cells. Other scientists — at George Washington University — are studying <a href="http://mda.org/research/gaag/dmdbmd-terence-partridge-phd" target="_blank">satellite cells in a mouse model</a> of DMD and comparing their development to human satellite cells. Researchers at the University of Texas Southwestern Medical Center are investigating muscle precursor stem cells (<em>myoblasts</em>) to see how <a href="http://mda.org/research/gaag/dmd-douglas-millay-phd" target="_blank">myoblasts develop into muscle fibers</a>, an important step in replacing muscle cells lost in DMD. This research may lead to renewed interest in transplanting myoblasts or other cells for DMD therapy. Researchers at the University of California, Los Angeles, are exploring whether increasing the level of a <a href="http://mda.org/research/gaag/dmd-rachelle-crosbie-watson-phd" target="_blank">muscle protein called <em>sarcospan</em></a> can stabilize muscle membranes, which are fragile due to the loss of dystrophin protein.</li>
<li><strong>Calcium handling in muscle.</strong> Scientists at the University of Pennsylvania are testing whether a new treatment that affects muscle calcium can <a href="http://mda.org/research/gaag/muscular-dystrophies-lee-sweeney-phd" target="_blank">slow damage to muscle tissue</a> in several forms of muscular dystrophy. Calcium mishandling is a common problem in several muscle diseases, including DMD. The new treatment will be tested in models of DMD, <strong><a href="http://mda.org/disease/distal-muscular-dystrophy/types#miyoshi" target="_blank">Miyoshi myopathy</a>,</strong> and <strong><a href="http://mda.org/disease/myotonic-muscular-dystrophy/overview" target="_blank">myotonic muscular dystrophy</a></strong>.</li>
</ul><p><strong>Dysferlinopathies</strong></p>
<p>Dysferlinopathies are muscle diseases caused by mutations in the dysferlin gene, an important muscle repair protein. They include <strong><a href="http://mda.org/disease/limb-girdle-muscular-dystrophy/overview" target="_blank">limb-girdle muscular dystrophy</a></strong> and <a href="http://mda.org/disease/distal-muscular-dystrophy/types#miyoshi" target="_blank"><strong>Miyoshi myopathy</strong></a>.</p>
<p>Unlike in Duchenne MD, anti-inflammatory steroidal drugs are not beneficial in these diseases. MDA’s grant to researchers at George Washington University supports tests of a <a href="http://mda.org/research/gaag/dysferlinopathies-jyoti-jaiswal-phd" target="_blank">new anti-inflammatory compound</a> in a mouse model of dysferlinopathy. The drug was developed with <a href="/news/mda-funds-gentler-glucocorticoid-dmd" target="_self">MDA support</a> by ReveraGen BioPharma for use in DMD.</p>
<p>If these efforts prove useful in the dysferlinopathies, they may have potential for other muscle diseases as well, including Duchenne muscular dystrophy, <strong><a href="http://mda.org/disease/dermatomyositis/overview" target="_blank">dermatomyositis</a></strong>, <strong><a href="http://mda.org/disease/polymyositis/overview" target="_blank">polymyositis</a></strong>, <strong><a href="http://mda.org/disease/myasthenia-gravis/overview" target="_blank">myasthenia gravis</a></strong>, and <strong><a href="http://mda.org/disease/lambert-eaton-myasthenic-syndrome/overview" target="_blank">Lambert-Eaton myasthenic syndrome</a></strong>.</p>
<p><a href="http://mda.org/disease/fsh-muscular-dystrophy/overview" target="_blank"><strong>Facioscapulohumeral muscular dystrophy (FSHD)</strong></a></p>
<p>Exciting new discoveries about the <a href="/news/newly-developed-fshd-mice-likely-aid-research" target="_self">genetic cause of FSHD</a> have yielded new targets at which to aim experimental treatments, with the goal of blocking the effects of the FSHD-causing mutation.</p>
<p>A group at the University of Washington in Seattle is exploring one <a href="http://mda.org/research/gaag/fshd-gregory-block-phd" target="_blank">biological pathway</a> in FSHD that holds promise for drug treatment. The project will lead to a deeper understanding of the FSHD disease process, with the potential of determining the best way to intervene.</p>
<p><a href="http://mda.org/disease/myotonic-muscular-dystrophy/overview" target="_blank"><strong>Myotonic muscular dystrophy (MMD, also known as DM)</strong></a></p>
<p>MMD is caused by an abnormally expanded gene that leads to the buildup of RNA molecules in cells. These clumps of RNA cause problems by <a href="/series/mmd-research-seeking-free-proteins-toxic-web-main" target="_self">trapping a needed protein</a> called <em>muscleblind 1</em>, which controls other genes.</p>
<p>With MDA help, two groups — one in Michigan and another in Texas — are developing “antisense” therapy that may be able to bind to excess RNA and prevent it from accumulating. (See <a href="http://mda.org/research/gaag/mmd-michael-pape-phd" target="_blank">Michael Pape</a> and <a href="http://mda.org/research/gaag/myotonic-dystrophy-thomas-cooper-md" target="_blank">Thomas Cooper</a> grants.)</p>
<p>Progress here also may aid in treatment of some forms of <a href="http://mda.org/disease/amyotrophic-lateral-sclerosis/overview" target="_blank"><strong>ALS (amyotrophic lateral sclerosis)</strong></a>, which also may involve accumulation of excess RNA.</p>
<p>If antisense oligonucleotide therapy is found safe and effective, there will be great urgency to extend clinical trials to children with <strong>congenital myotonic dystrophy</strong>, a severe form of the disease that begins in infancy. However, not enough is known about the progression of congenital MMD.</p>
<p>To this end, an MDA-funded group in Salt Lake City is conducting a <a href="http://mda.org/research/gaag/cdm-nicholas-johnson-md" target="_blank">“natural history” study</a> to collect information on the most critical symptoms of congenital MMD and how those symptoms change over time. This will allow for appropriate symptoms to be targeted in future trials, and help determine the most beneficial age at which to give treatments.</p>
<p>Another MDA grant focuses on a particularly challenging symptom of MMD — <a href="http://mda.org/research/gaag/mmd-maurice-swanson-phd" target="_blank">excessive daytime sleepiness</a>. Researchers at the University of Florida, Gainesville, are attempting to define the molecular mechanisms that underlie abnormal sleep regulation in MMD, identifying the key genes responsible and developing new models of the disease.</p>
<p><a href="http://mda.org/disease/mitochondrial-myopathies/overview" target="_blank"><strong>Mitochondrial myopathies</strong></a></p>
<p>Mitochondrial myopathies are caused by genetic defects in cell structures called <em>mitochondria</em> that process food molecules into the energy used by a muscle cell for all its functions, including contraction.</p>
<p>Scientists at Cornell University are testing whether <a href="http://mda.org/research/gaag/mitochondrial-myopathies-marilena-d-aurelio-phd" target="_blank">dietary supplementation</a> can be therapeutic in mitochondrial myopathies by bypassing the processing step that is impaired in the mitochondria.</p>
<p><a href="http://mda.org/disease/oculopharyngeal-muscular-dystrophy/overview" target="_blank"><strong>Oculopharyngeal muscular dystrophy (OPMD)</strong></a></p>
<p>OPMD primarily affects the muscles controlling the eyes and throat. To facilitate research in this disease, MDA is supporting scientists at Emory University who are developing a more <a href="http://mda.org/research/gaag/opmd-grace-pavlath-phd" target="_blank">accurate mouse model</a> of OPMD that is closer to the human condition.</p>
<p>The new model will be the first to accurately mimic this disease in mice, providing a tool both for understanding <a href="/series/focus-oculopharyngeal-muscular-dystrophy-opmd/home" target="_self">how the disease affects muscle</a> and for finding therapies.</p>
<p><a href="http://mda.org/disease/spinal-muscular-atrophy/overview" target="_blank"><strong>Spinal muscular atrophy (SMA)</strong></a></p>
<p>SMA symptoms are caused by the loss of muscle-controlling nerve cells called motor neurons. Scientists at the University of California, Los Angeles, are studying the development of <a href="http://mda.org/research/gaag/sma-bennett-novitch-phd" target="_blank">motor neurons that control respiration</a>, which are affected early in the infant-onset form of the disease (SMA1). One theory of motor neuron diseases is that the neurons that die earliest are the ones that are most vulnerable, a vulnerability that may arise during development. Researchers hope to learn more about normal motor neuron development and gain insight into the processes that may make respiratory motor neurons especially vulnerable.</p>
<p>A <em>neuromuscular synapse</em> is the connection between the motor neuron and muscle cell through which the motor neuron transmits signals that controls muscle contraction. One of the first events leading to motor neuron death is the loss of connection between neuron and muscle at the synapse. A team at Columbia University is studying <a href="http://mda.org/research/gaag/sma-umrao-monani-phd" target="_blank">how these synapses develop and how that process is disrupted</a> in SMA.</p>
<p><a href="http://mda.org/disease/spinal-bulbar-muscular-atrophy/overview" target="_blank"><strong>Spinal-bulbar muscular atrophy (SBMA)</strong></a></p>
<p>Two studies, both at the University of California, San Diego, examine the important role of protein recycling in SBMA. Cells rely on a process called <em>autophagy</em> (awe-TOF-uh-gee) to break down and recycle large proteins and subcellular structures. Autophagy is critical for cell health, but relatively little is known about the process in motor neurons, the muscle-controlling nerve cells that are affected in SBMA and other diseases, including ALS and SMA. </p>
<p>In SBMA, proteins misfold and accumulate in motor neurons. Autophagy should take care of these accumulated proteins before they cause problems, but the process appears to be disrupted in SBMA. The goal of both projects is to learn more about the <a href="http://mda.org/research/gaag/sbma-als-constanza-cortes-phd" target="_blank">regulators of autophagy</a> in motor neurons and how that <a href="http://mda.org/research/gaag/sbma-albert-la-spada-md-phd" target="_blank">regulation goes awry</a> in SBMA.</p>
<p>Insights from these studies will likely benefit work in ALS, in which misfolded proteins also accumulate.</p>
<p class="article-subhead">MDA’s research program</p>
<p>“As research evolves, new ideas come to the fore in different diseases,” says MDA’s Larkindale. “MDA is committed to pursuing those new ideas in all the diseases in our program — and to leverage the progress in each of them to speed the best research in all of them.”</p>
</div></div></div><div class="field field-name-field-article-disease field-type-taxonomy-term-reference field-label-above"><div class="field-label">Disease:&nbsp;</div><div class="field-items"><div class="field-item even"><a href="/disease-name/muscular-dystrophies" typeof="skos:Concept" property="rdfs:label skos:prefLabel" datatype="">Muscular Dystrophies</a></div><div class="field-item odd"><a href="/disease-name/myotonic-muscular-dystrophy-mmd" typeof="skos:Concept" property="rdfs:label skos:prefLabel" datatype="">Myotonic Muscular Dystrophy (MMD)</a></div><div class="field-item even"><a href="/disease-name/limb-girdle-muscular-dystrophy-lgmd" typeof="skos:Concept" property="rdfs:label skos:prefLabel" datatype="">Limb-Girdle Muscular Dystrophy (LGMD)</a></div><div class="field-item odd"><a href="/disease-name/facioscapulohumeral-muscular-dystrophy-fsh-or-fshd" typeof="skos:Concept" property="rdfs:label skos:prefLabel" datatype="">Facioscapulohumeral Muscular Dystrophy (FSH or FSHD)</a></div><div class="field-item even"><a href="/disease-name/oculopharyngeal-muscular-dystrophy-opmd" typeof="skos:Concept" property="rdfs:label skos:prefLabel" datatype="">Oculopharyngeal Muscular Dystrophy (OPMD)</a></div><div class="field-item odd"><a href="/disease-name/distal-muscular-dystrophy-dd" typeof="skos:Concept" property="rdfs:label skos:prefLabel" datatype="">Distal Muscular Dystrophy (DD)</a></div><div class="field-item even"><a href="/disease-name/duchenne-muscular-dystrophy-dmd" typeof="skos:Concept" property="rdfs:label skos:prefLabel" datatype="">Duchenne Muscular Dystrophy (DMD)</a></div><div class="field-item odd"><a href="/disease-name/neuromuscular-junction-diseases" typeof="skos:Concept" property="rdfs:label skos:prefLabel" datatype="">Neuromuscular Junction Diseases</a></div><div class="field-item even"><a href="/disease-name/lambert-eaton-myasthenic-syndrome-lems" typeof="skos:Concept" property="rdfs:label skos:prefLabel" datatype="">Lambert-Eaton Myasthenic Syndrome (LEMS)</a></div><div class="field-item odd"><a href="/disease-name/myasthenia-gravis-mg" typeof="skos:Concept" property="rdfs:label skos:prefLabel" datatype="">Myasthenia Gravis (MG)</a></div><div class="field-item even"><a href="/disease-name/other-myopathies" typeof="skos:Concept" property="rdfs:label skos:prefLabel" datatype="">Other Myopathies</a></div><div class="field-item odd"><a href="/disease-name/central-core-disease-ccd" typeof="skos:Concept" property="rdfs:label skos:prefLabel" datatype="">Central Core Disease (CCD)</a></div><div class="field-item even"><a href="/disease-name/peripheral-neuropathies" typeof="skos:Concept" property="rdfs:label skos:prefLabel" datatype="">Peripheral Neuropathies</a></div><div class="field-item odd"><a href="/disease-name/charcot-marie-tooth-disease-cmt" typeof="skos:Concept" property="rdfs:label skos:prefLabel" datatype="">Charcot-Marie-Tooth Disease (CMT)</a></div><div class="field-item even"><a href="/disease-name/inflammatory-myopathies" typeof="skos:Concept" property="rdfs:label skos:prefLabel" datatype="">Inflammatory Myopathies</a></div><div class="field-item odd"><a href="/disease-name/dermatomyositis-dm" typeof="skos:Concept" property="rdfs:label skos:prefLabel" datatype="">Dermatomyositis (DM)</a></div><div class="field-item even"><a href="/disease-name/polymyositis-pm" typeof="skos:Concept" property="rdfs:label skos:prefLabel" datatype="">Polymyositis (PM)</a></div><div class="field-item odd"><a href="/disease-name/mitochondrial-myopathy" typeof="skos:Concept" property="rdfs:label skos:prefLabel" datatype="">Mitochondrial Myopathy</a></div><div class="field-item even"><a href="/disease-name/motor-neuron-diseases" typeof="skos:Concept" property="rdfs:label skos:prefLabel" datatype="">Motor Neurone Disease</a></div><div class="field-item odd"><a href="/disease-name/spinal-muscular-atrophy-sma" typeof="skos:Concept" property="rdfs:label skos:prefLabel" datatype="">Spinal Muscular Atrophy (SMA)</a></div><div class="field-item even"><a href="/disease-name/spinal-bulbar-muscular-atrophy-sbma" typeof="skos:Concept" property="rdfs:label skos:prefLabel" datatype="">Spinal-Bulbar Muscular Atrophy (SBMA)</a></div></div></div><div class="field field-name-field-article-link field-type-link-field field-label-above"><div class="field-label">Link:&nbsp;</div><div class="field-items"><div class="field-item even"><a href="http://quest.mda.org/news/mda-awards-85-million-31-neuromuscular-disease-research-projects">MDA Awards $8.5 Million to 31 Neuromuscular Disease Research Projects</a></div></div></div><div class="field field-name-field-guid field-type-number-integer field-label-above"><div class="field-label">GUID:&nbsp;</div><div class="field-items"><div class="field-item even">22 206</div></div></div><div class="field field-name-field-quest-thumbnail-url field-type-text field-label-above"><div class="field-label">Thumbnail:&nbsp;</div><div class="field-items"><div class="field-item even">/sites/default/files/cash%252C%20dollars%20742x423x100rez.JPG</div></div></div><div class="field field-name-field-article-tags field-type-taxonomy-term-reference field-label-above"><div class="field-label">Tags:&nbsp;</div><div class="field-items"><div class="field-item even"><a href="/disease/topic/research" typeof="skos:Concept" property="rdfs:label skos:prefLabel" datatype="">research</a></div></div></div>Wed, 21 Aug 2013 09:35:00 +0000jcook@mdausa.org260076 at http://www.mda.orgFriedreich's Ataxia Registry Open for Enrollmenthttp://www.mda.org/quest/friedreichs-ataxia-registry-open-enrollment
<div class="field field-name-body field-type-text-with-summary field-label-hidden"><div class="field-items"><div class="field-item even" property="content:encoded"><p>The <a href="http://www.sanfordresearch.org/cords/" target="_blank">Coordination of Rare Diseases at Sanford (CoRDS)</a> national rare disease registry is now hosting an ataxia patient registry for people with <a href="http://mda.org/disease/friedreichs-ataxia/overview" target="_blank"><strong>Friedreich's ataxia (FA)</strong></a> or other disorders classified as ataxias (conditions that cause problems with balance or coordination).</p>
<p>A registry is a database of information about individuals with a specific condition that enables tracking of various health-related or quality-of-life outcomes.</p>
<p>The <a href="http://www.sanfordresearch.org/newsevents/NewsDetail23388.cfm?Id=0,1770" target="_blank">ataxia patient registry</a> was formed through a partnership between the <a href="http://www.ataxia.org/" target="_blank">National Ataxia Foundation</a> and <a href="http://www.sanfordresearch.org/" target="_blank">Sanford Research</a>. It's a part of the CoRDS Registry, which facilitates the establishment of registries for all rare diseases. A specific questionnaire is included for people who have any type of ataxia or who are at risk for ataxia.</p>
<p>The registry provides a secure way for participants to make their basic medical history known to researchers without sacrificing their privacy.</p>
<p>Participation is expected to help accelerate research focused on FA and other ataxias by providing a resource through which researchers can identify people who may be interested in participating in studies.</p>
<h4 class="article-subhead">Data will be de-identified</h4>
<p>Names and contact information for those who enroll in the CoRDS ataxia patient registry will be protected. Registrants may choose to have their de-identified information shared with researchers or other patient registries. They also can choose to allow their information — which may include participants' names — to be shared with patient advocacy groups.</p>
<p>Registrants can update their information at any time and will be contacted annually by CoRDS for additional updates.</p>
<p>Participation is voluntary, and participants may withdraw from the registry at any time. Upon withdrawal, all of the participant's identifiable information will be removed.</p>
<h4 class="article-subhead">Registrants can learn about FA clinical trials</h4>
<p>If participants choose to share their de-identified information with researchers, they may be contacted about possible opportunities to participate in research. These could include:</p>
<ul><li>natural history studies, which aim to increase understanding of a disorder; or</li>
<li>clinical trials to test the safety and <a class="definition" title="how well the therapy works">efficacy</a> of experimental drugs or treatments.</li>
</ul><p>In order to obtain registry data, researchers are required to have <a class="definition" title="a group of scientists and laypersons from the community who review proposed research that involves human subjects">Institutional Review Board (IRB)</a> approval for their research project and the permission of the CoRDS Scientific Advisory Board.</p>
<p>(To learn more about participating in a research registry, read <a href="/article/register-or-not-register" target="_self">To Register or Not to Register: Should you sign up with a research registry about your disease?</a>)</p>
<h4 class="article-subhead">To enroll in CoRDS</h4>
<p>Enrollment in the CoRDS Registry can be accomplished online or through the mail. Registration is expected to take approximately 20 minutes if done online.</p>
<p>To register, first <a href="https://www.sanfordresearch.org/CoRDS/CoRDSRegistryForm/" target="_blank">fill out the CoRDS Registry form</a> and indicate whether you prefer to complete enrollment online or by mail.</p>
<p>CoRDS will send an email to those who choose to enroll online that includes a username and password to log in to the secure site.</p>
<p>CoRDS will mail necessary forms to those who prefer not to enroll online.</p>
<p>For more information about how to enroll:</p>
<ul><li>view a CoRDS enrollment <a href="http://www.sanfordresearch.org/cords/" target="_blank">tutorial</a>;</li>
<li>visit the CoRDS <a href="http://www.sanfordresearch.org/cords/faqs/" target="_blank">FAQ page</a> (click on "Participants"); or</li>
<li>contact CoRDS personnel at (605) 312-6423, or <a href="mailto:cords@sanfordhealth.org" target="_blank">cords@sanfordhealth.org</a>.</li>
</ul></div></div></div><div class="field field-name-field-article-disease field-type-taxonomy-term-reference field-label-above"><div class="field-label">Disease:&nbsp;</div><div class="field-items"><div class="field-item even"><a href="/disease-name/peripheral-neuropathies" typeof="skos:Concept" property="rdfs:label skos:prefLabel" datatype="">Peripheral Neuropathies</a></div><div class="field-item odd"><a href="/disease/friedreich%E2%80%99s-ataxia-fa" typeof="skos:Concept" property="rdfs:label skos:prefLabel" datatype="">Friedreich’s Ataxia (FA)</a></div></div></div><div class="field field-name-field-article-link field-type-link-field field-label-above"><div class="field-label">Link:&nbsp;</div><div class="field-items"><div class="field-item even"><a href="http://quest.mda.org/news/friedreichs-ataxia-registry-open-enrollment">Friedreich's Ataxia Registry Open for Enrollment</a></div></div></div><div class="field field-name-field-guid field-type-number-integer field-label-above"><div class="field-label">GUID:&nbsp;</div><div class="field-items"><div class="field-item even">21 986</div></div></div><div class="field field-name-field-quest-thumbnail-url field-type-text field-label-above"><div class="field-label">Thumbnail:&nbsp;</div><div class="field-items"><div class="field-item even">/sites/default/files/puzzle-pieces-coming-together-742.jpg</div></div></div><div class="field field-name-field-article-tags field-type-taxonomy-term-reference field-label-above"><div class="field-label">Tags:&nbsp;</div><div class="field-items"><div class="field-item even"><a href="/disease/topic/research" typeof="skos:Concept" property="rdfs:label skos:prefLabel" datatype="">research</a></div></div></div>Fri, 12 Jul 2013 18:05:00 +0000jcook@mdausa.org259641 at http://www.mda.orgCMT1A: High-Dose Ascorbic Acid Not Effectivehttp://www.mda.org/quest/cmt1a-high-dose-ascorbic-acid-not-effective
<div class="field field-name-body field-type-text-with-summary field-label-hidden"><div class="field-items"><div class="field-item even" property="content:encoded"><p>An MDA-supported trial of <em>high-dose ascorbic acid (vitamin C)</em> in the <em>type 1A form</em> of <a href="http://mda.org/disease/charcot-marie-tooth/overview" target="_self"><strong>Charcot-Marie-Tooth disease (CMT)</strong></a> (CMT1A) did not find a benefit for this treatment, although it appeared safe and was generally well-tolerated. There were no serious adverse events judged to be related to the study drug.</p>
<p>Despite the disappointing results, the trial did have a positive effect on future trials in CMT, say the researchers. It resulted in the development of the necessary infrastructure to coordinate and conduct multicenter trials; helped improve trial design in CMT; and utilized ratings scales designed to measure CMT symptom severity.</p>
<p>The trial was conducted at sites at Wayne State University in Detroit, Johns Hopkins University in Baltimore and the University of Rochester in New York.</p>
<p>MDA grantee Richard A. Lewis, now at Cedars-Sinai Medical Center in Los Angeles and at Wayne State University in Detroit during this trial, with colleagues, <a href="http://archneur.jamanetwork.com/article.aspx?articleid=1699803" target="_blank">published the results June 24, 2013, in JAMA Neurology</a>.</p>
<p>An <a href="http://archneur.jamanetwork.com/article.aspx?articleid=1699804" target="_blank">accompanying editorial</a>, also published June 24 and authored by Pragna Patel at the University of Southern California in Los Angeles and David Pleasure at the University of California, Davis, discusses the study and probes new directions for drug treatment of CMT1A.</p>
<h4 class="article-subhead">CMT Neuropathy Score was main outcome measure</h4>
<p>The <a href="http://www.clinicaltrials.gov/ct2/show/NCT00484510" target="_blank">high-dose ascorbic acid trial in CMT1A</a> included 110 participants, ages 13 to 70, with this disorder. They were randomly assigned to receive eight capsules of 500 milligrams each of ascorbic acid per day, or placebo capsules that looked the same as the ascorbic acid capsules.</p>
<p>Four times as many participants were assigned to ascorbic acid as were assigned to the placebo.</p>
<p>Using primarily the <a href="https://www.phenxtoolkit.org/index.php?pageLink=browse.protocoldetails&amp;id=130201" target="_blank">CMT Neuropathy Score (CMTNS)</a>, a standardized scale to measure the effects of CMT, the investigators compared the scores of 87 participants receiving ascorbic acid, 23 participants receiving placebo capsules, and 72 "natural history" controls — untreated people with CMT1A who were part of an earlier study.</p>
<p>The investigators analyzed changes in the CMTNS and other measures over the course of two years, comparing the two groups in the current study to each other and to a natural history group.</p>
<p>The CMTNS measures motor and sensory function, strength and electrical signals from muscles and nerves. Higher scores reflect more severe disease symptoms. Reductions in a score represent improvement.</p>
<h4 class="article-subhead">Placebo and ascorbic acid groups improved</h4>
<p>The natural history group had worsened, on average, by +1.33 points on the CMTNS over two years. Surprisingly, however, both the placebo group and the ascorbic acid group in the current study did much better on this scale than the natural history group. In fact, both groups <em>improved</em> slightly (showing lower scores than at baseline) after two years, with the placebo group improving a little more (score reduced by -0.92 points) than the ascorbic acid group (score reduced by -0.21 points).</p>
<p>Overproduction of a protein called <em>PMP22</em>, which forms part of the sheath that surrounds nerve fibers, is the biological cause of CMT1A. Therefore, the investigators also measured levels of genetic instructions for PMP22 in skin cells in 69 trial participants — 55 in the ascorbic acid group and 14 in the placebo group. No effects of the treatment were detected.</p>
<p>"Subjects had better outcomes than those reported in natural history studies," the authors of the June 24 publication write, adding that "the concurrent [during this trial] placebo group, though small, had better-than-expected outcomes over a two-year period."</p>
<p>They conclude that it is "unlikely that 4 grams/day ascorbic acid has a clinically meaningful effect upon the course of CMT1A over a two-year period."</p>
<h4 class="article-subhead">Mouse study looked promising</h4>
<p>The original incentive for the current trial was a <a href="http://quest.mda.org/article/research-updates-july-august-2004#cmt2A_vitaminC" target="_self">2004 study conducted in France</a> that showed that mice with a disease resembling CMT1A showed improvements in function when given ascorbic acid. The researchers on the mouse study also found evidence that the treatment reduced overproduction of the PMP22 protein.</p>
<p>The promising mouse results led to several trials of ascorbic acid in people with CMT1A, most of them at dosage levels lower than 4 grams per day. None showed clear benefit, but a <a href="http://quest.mda.org/news/cmt-vitamin-c" target="_self">trial conducted in Australia in 81 CMT1A-affected children</a> showed a low dose of ascorbic acid might have improved function in some of them.</p>
<h4 class="article-subhead">Lessons learned</h4>
<p>The investigators on the current study note in their publication of the results that the high-dose CMT1A ascorbic acid trial pointed out some potential pitfalls that should be recognized in the design of future trials. They note that:</p>
<ul><li>a natural history control group may not be an accurate reflection of the current natural history of a disease, particularly if the group is not derived from similarly designed former trials; and</li>
<li>assigning treatment-to-placebo participants in a ratio of four to one (four times as many treatment participants as placebo participants) may have biased the study toward a "placebo effect," meaning those on the placebo thought they had a good chance of being on the drug and may have performed better because of that perception.</li>
</ul><p>The investigators also note the important strides made in the ability to conduct multicenter CMT studies as a result of conducting this trial. They note that:</p>
<ul><li>before this high-dose ascorbic acid trial, there was no infrastructure in place to conduct large-scale, multicenter trials in CMT;</li>
<li>such an infrastructure was developed to conduct this trial and is now in place for future trials;</li>
<li>a new version of the CMTNS was developed as the ascorbic acid trial was nearing completion; and</li>
<li>the <a href="http://quest.mda.org/news/new-tools-trials-children-cmt" target="_self">CMT Pediatric Scale</a>, which measures physical functioning in children with CMT, was developed (with MDA support) as the ascorbic acid trial was nearing completion.</li>
</ul><h4 class="article-subhead">Registry seeks participants for future studies</h4>
<p>The <a href="http://rarediseasesnetwork.epi.usf.edu/index.htm" target="_blank">Rare Diseases Clinical Research Network</a>, funded by the National Institutes of Health, invites families with CMT1A, CMT1B, CMT2A, CMTX, CMT4 or other known or unknown forms of CMT to <a href="http://rarediseasesnetwork.epi.usf.edu/INC/register/registry.htm" target="_blank">join an online "contact" registry</a> that asks for information such as your or your child's name, address, date and place of birth, email address and items relevant to your or your child's disorder.</p>
<p>The registry, developed in part with MDA involvement, is designed to help researchers identify and recruit potential participants for future research studies.</p>
</div></div></div><div class="field field-name-field-article-disease field-type-taxonomy-term-reference field-label-above"><div class="field-label">Disease:&nbsp;</div><div class="field-items"><div class="field-item even"><a href="/disease-name/charcot-marie-tooth-disease-cmt" typeof="skos:Concept" property="rdfs:label skos:prefLabel" datatype="">Charcot-Marie-Tooth Disease (CMT)</a></div><div class="field-item odd"><a href="/disease-name/peripheral-neuropathies" typeof="skos:Concept" property="rdfs:label skos:prefLabel" datatype="">Peripheral Neuropathies</a></div><div class="field-item even"><a href="/disease-name/peripheral-neuropathies" typeof="skos:Concept" property="rdfs:label skos:prefLabel" datatype="">Peripheral Neuropathies</a></div></div></div><div class="field field-name-field-article-link field-type-link-field field-label-above"><div class="field-label">Link:&nbsp;</div><div class="field-items"><div class="field-item even"><a href="http://quest.mda.org/news/cmt1a-high-dose-ascorbic-acid-not-effective">CMT1A: High-Dose Ascorbic Acid Not Effective</a></div></div></div><div class="field field-name-field-guid field-type-number-integer field-label-above"><div class="field-label">GUID:&nbsp;</div><div class="field-items"><div class="field-item even">21 946</div></div></div><div class="field field-name-field-quest-thumbnail-url field-type-text field-label-above"><div class="field-label">Thumbnail:&nbsp;</div><div class="field-items"><div class="field-item even">/sites/default/files/pill-bottles-in-row.jpg</div></div></div><div class="field field-name-field-article-tags field-type-taxonomy-term-reference field-label-above"><div class="field-label">Tags:&nbsp;</div><div class="field-items"><div class="field-item even"><a href="/disease/topic/clinical-trial" typeof="skos:Concept" property="rdfs:label skos:prefLabel" datatype="">clinical trial</a></div><div class="field-item odd"><a href="/disease/topic/research" typeof="skos:Concept" property="rdfs:label skos:prefLabel" datatype="">research</a></div></div></div>Thu, 27 Jun 2013 10:15:00 +0000mdaadmindfgdg34534432259516 at http://www.mda.orgStudy Suggests Sleep-Disordered Breathing Common in FAhttp://www.mda.org/quest/study-suggests-sleep-disordered-breathing-common-fa
<div class="field field-name-body field-type-text-with-summary field-label-hidden"><div class="field-items"><div class="field-item even" property="content:encoded"><p>Results from a study conducted in Australia show that a nighttime respiratory problem called <em>obstructive sleep apnea</em> occurs more frequently in people with <a href="http://mda.org/disease/friedreichs-ataxia/overview" target="_blank"><strong>Friedreich's ataxia (FA)</strong></a> than in the general population.</p>
<p>Obstructive sleep apnea is a disorder in which the muscles of the throat intermittently relax and block the upper airway during sleep, causing pauses in breathing. This can lead to a reduction in the amount of oxygen that makes it to vital organs and to irregular heart rhythms.</p>
<p>In people with FA who participated in the study, the presence of obstructive sleep apnea was significantly correlated with having had the disease for a longer period of time and with more severe symptoms.</p>
<p>In a <a href="http://neurology.org/content/early/2013/05/22/WNL.0b013e318297ef18.abstract" target="_blank">paper published online May 22, 2013, in Neurology</a>, Louise Corben at Murdoch Children's Research Institute in Parkville, Australia, and colleagues, recommend that people with FA undergo regular screening for obstructive sleep apnea to identify the need for further study and possible subsequent treatment.</p>
<h4 class="article-subhead">Obstructive sleep apnea correlated with disease characteristics</h4>
<p>The investigators administered the <a href="http://quest.mda.org/article/better-nights-better-days#sleepy" target="_self">Epworth Sleepiness Scale</a> (used to evaluate how sleepy someone is during the day) once a year, for up to three years, to 82 people, ages 10 to 71 years, with a genetically confirmed diagnosis of FA. They referred those who scored greater than 8 on the scale, or who showed clinical symptoms suggestive of a nighttime respiratory disorder, to have a polysomnogram, an assessment designed to pinpoint the causes of fragmented or disrupted sleep via a combination of measurements, including encephalographic (brain) activity, eye movement, muscle activity, heart rhythm, respiratory effort, nasal and oral airflow, oxygen saturation, carbon dioxide levels, limb movements and snoring.</p>
<p>Out of 82 people with FA in the study, 17 (21 percent) received a diagnosis of obstructive sleep apnea. In nine participants, it was classified as mild; in three, moderate; and in five, severe. By contrast, the investigators estimate the prevalence of obstructive sleep apnea in the general population to be between 3 and 7 percent.</p>
<p>The risk of developing obstructive sleep apnea for those in the study was 5.1 times higher than for those in the general population.</p>
<p>Importantly, although <a class="definition" title="BMI is a measure of body " fatness="" and="" can="" be="" calculated="" by="" multiplying="" one="" weight="" in="" pounds="" times="" dividing="" the="" result="" height="" feet="" squared="">body mass index</a> is significantly correlated with obstructive sleep apnea in the general population, there was no correlation detected between the two in people with FA.</p>
<p>In addition, the presence of obstructive sleep apnea was significantly correlated with the duration of disease and clinical severity: Participants who received a diagnosis of obstructive sleep apnea had longer disease duration and more severe disease than those who did not.</p>
<h4 class="article-subhead">Implications for people with FA</h4>
<p>FA can cause a reduction in the ability to control the <a class="definition" title="muscles of the mouth and upper airway, involved in speaking, swallowing and breathing">bulbar muscles</a>, which may explain the correlation between longer disease duration and the presence of obstructive sleep apnea. However, because there was no objective measure of bulbar function, it can't be determined whether this was the cause of the disorder in people who participated in the Australian study.</p>
<p>Other characteristics of FA that may contribute to development of obstructive sleep apnea include reduced respiratory muscle strength, scoliosis and poor posture.</p>
<p>The researchers note that an association exists between obstructive sleep apnea and fatigue — a symptom that frequently is reported by people with FA in quality of life studies. The mechanism that underlies FA-related fatigue is not known, but obstructive sleep apnea may play a role.</p>
<p>In addition, it's possible that obstructive sleep apnea in people with FA may:</p>
<ul><li>worsen neurodegeneration and heart damage by accelerating a cell-damaging process called <em>oxidative stress</em>; and</li>
<li>compromise heart function.</li>
</ul><p>The investigators note that the study data support routine screening for evidence of nighttime respiratory problems in people with FA, and subsequent treatment if obstructive sleep apnea or other breathing disorders are detected.</p>
<p><strong>Note</strong>: <em>Standard treatment of obstructive sleep apnea (continuous positive airway pressure, or CPAP) may not always be appropriate for people with neuromuscular disease. For more information, see </em><a href="http://quest.mda.org/article/not-enough-zzzzzzs" target="_self"><em>Not Enough ZZZzzzs?</em></a></p>
</div></div></div><div class="field field-name-field-article-disease field-type-taxonomy-term-reference field-label-above"><div class="field-label">Disease:&nbsp;</div><div class="field-items"><div class="field-item even"><a href="/disease-name/peripheral-neuropathies" typeof="skos:Concept" property="rdfs:label skos:prefLabel" datatype="">Peripheral Neuropathies</a></div><div class="field-item odd"><a href="/disease/friedreich%E2%80%99s-ataxia-fa" typeof="skos:Concept" property="rdfs:label skos:prefLabel" datatype="">Friedreich’s Ataxia (FA)</a></div><div class="field-item even"><a href="/disease-name/peripheral-neuropathies" typeof="skos:Concept" property="rdfs:label skos:prefLabel" datatype="">Peripheral Neuropathies</a></div></div></div><div class="field field-name-field-article-link field-type-link-field field-label-above"><div class="field-label">Link:&nbsp;</div><div class="field-items"><div class="field-item even"><a href="http://quest.mda.org/news/study-suggests-sleep-disordered-breathing-common-fa">Study Suggests Sleep-Disordered Breathing Common in FA</a></div></div></div><div class="field field-name-field-guid field-type-number-integer field-label-above"><div class="field-label">GUID:&nbsp;</div><div class="field-items"><div class="field-item even">21 646</div></div></div><div class="field field-name-field-quest-thumbnail-url field-type-text field-label-above"><div class="field-label">Thumbnail:&nbsp;</div><div class="field-items"><div class="field-item even">/sites/default/files/sleep-breathing-mask.jpg</div></div></div><div class="field field-name-field-article-tags field-type-taxonomy-term-reference field-label-above"><div class="field-label">Tags:&nbsp;</div><div class="field-items"><div class="field-item even"><a href="/disease/topic/living" typeof="skos:Concept" property="rdfs:label skos:prefLabel" datatype="">living with</a></div><div class="field-item odd"><a href="/disease/topic/research" typeof="skos:Concept" property="rdfs:label skos:prefLabel" datatype="">research</a></div></div></div>Tue, 04 Jun 2013 11:49:00 +0000mdaadmindfgdg34534432259341 at http://www.mda.orgFA: RG2833 Is Well-Tolerated and Increases Frataxin Gene Activityhttp://www.mda.org/quest/fa-rg2833-well-tolerated-and-increases-frataxin-gene-activity
<div class="field field-name-body field-type-text-with-summary field-label-hidden"><div class="field-items"><div class="field-item even" property="content:encoded"><p>Interim results from a phase 1 clinical trial of <em>RG2833</em> in people with <a href="http://mda.org/disease/friedreichs-ataxia/overview" target="_blank"><strong>Friedreich’s ataxia (FA)</strong></a> show that the experimental drug is well-tolerated, and that it appears to increase the activity of the gene for the <em>frataxin</em> protein.</p>
<p>RG2833, which belongs to a class of drugs called <em>histone deacetylase (HDAC) inhibitors</em>, is designed to work by "turning on" an abnormally “turned-off” frataxin gene (DNA). This allows cellular machinery to "read" the DNA and produce the otherwise deficient frataxin protein. (For more about the causes of FA, read <a href="http://quest.mda.org/series/focus-friedreichs-ataxia/fa-case-of-impaired-ironworks" target="_self">FA: A Case of Impaired Ironworks</a>.)</p>
<p>Jim Rusche, senior vice president of research and development at <a href="http://www.repligen.com/" target="_blank">Repligen Corp.</a>, presented the results as a “snapshot before the end of the study,” April 24, 2013, at <a href="http://mda.org/2013ScientificConference/overview" target="_blank">MDA’s Scientific Conference</a> in Washington, D.C.</p>
<p>While the encouraging results are an important step forward in finding new drugs, Rusche said, more tests will be required before a drug like RG2833 can be available as a safe and effective treatment for FA.</p>
<h4 class="article-subhead">RG2833 well-tolerated; appears to increase frataxin gene activity</h4>
<p>According to the trial design, 20 adults with FA were assigned to one of four groups, or <em>cohorts</em>:</p>
<ul><li>Those in the first group received one dose of either 30 or 60 milligrams of RG2833.</li>
<li>Those in the second group received one 120-milligram dose of the experimental drug.</li>
<li>Participants assigned to the third and fourth groups received two treatments 28 days apart, in which one treatment was a placebo and the other was a single 180-milligram dose of RG2833 (third group) or in which both treatments consisted of two 120-milligram doses of RG2833 (fourth group).</li>
</ul><p>Reported results to date include data covering the first three groups, as well as the fourth group after the first of two scheduled treatments.</p>
<p>So far, RG2833 has been well-tolerated, Rusche reported. No drug-related severe adverse events have been reported, and none of the participants have dropped out of the trial.</p>
<p>Data show that amounts of RG2833 measured in participants’ blood cells increased as increasing doses of the oral drug were administered. Investigators also saw evidence that the drug engaged its target, inhibiting the <em>deacetylase</em><em>activity</em> that causes the frataxin gene to be “turned off.”</p>
<p>In addition, RG2833 increased levels of frataxin <a class="definition" title="the final set of genetic instructions used by the cell to build a protein">messenger RNA</a> in trial participants in a dose-dependent manner in all five participants in group 3 and in four of five participants in group 4. Evidence suggested a possible increase in frataxin protein levels in three out of the 10 participants that comprised the third and fourth groups.</p>
<p>The study demonstrates “proof of principle,” Rusche said, that an HDAC inhibitor can increase frataxin production in people with FA.</p>
<h4 class="article-subhead">About the trial</h4>
<p>Biopharmaceutical company Repligen, headquartered in Waltham, Mass., <a href="http://quest.mda.org/news/repligen-launches-italian-trial-experimental-drug-fa" target="_self">launched the phase 1 trial</a>— the first to test a therapy specifically developed to treat the underlying molecular cause of FA — in March 2012. It remains ongoing at San Luigi Gonzaga University Hospital in Turin, Italy, under the direction of principal investigator Luca Durelli.</p>
<p>The main aim of the trial is to assess the safety of RG2833 in people with FA. However, investigators also will evaluate the drug's <em>pharmacokinetics</em> profile (how the drug is absorbed, distributed, metabolized and excreted by the body) and its <em>pharmacodynamics</em> (the effects the drug has on the body).</p>
<p>Results from the trial will help with the design of future, longer-term trials aimed at examining safety and <a class="definition" title="how well the therapy works">efficacy</a>— a necessary step in obtaining U.S. Food and Drug Administration (FDA) approval of RG2833 or similar compounds for the treatment of FA.</p>
<h4 class="article-subhead">MDA has supported the development of RG2833</h4>
<p>MDA has awarded Repligen two grants to fund development of HDAC inhibitors for FA. The first, awarded in late 2007, totaled nearly $1 million. In December 2009, MDA awarded Repligen a <a href="http://quest.mda.org/news/new-mda-grant-will-help-develop-fa-drug" target="_self">supplemental grant of $731,534</a> to support ongoing development and completion of the preclinical testing required to advance the experimental drug toward human clinical trials. The awards were made through <a href="http://www.mda.org/research/trac/" target="_blank">MDA's translational research program</a>.</p>
<p><a href="http://www.fa-petition.org/en/gofar/gofar.html" target="_blank">GoFAR</a>, a Friedreich's ataxia patient advocacy group based in Italy, and the <a href="http://cordis.europa.eu/fp7/home_en.html" target="_blank">European Union 7th Framework Program</a> EFACTS (European Friedreich's Ataxia Consortium for Translational Studies) also directly funded a portion of the phase 1 clinical trial.</p>
<p>Previous MDA-supported studies in mice with a disease resembling FA have confirmed that <a href="http://quest.mda.org/news/experimental-compound-fa-hits-its-molecular-target" target="_self">RG2833 targets the enzyme HDAC3</a>, and that blocking or inhibiting that enzyme increases frataxin production.</p>
</div></div></div><div class="field field-name-field-article-disease field-type-taxonomy-term-reference field-label-above"><div class="field-label">Disease:&nbsp;</div><div class="field-items"><div class="field-item even"><a href="/disease-name/peripheral-neuropathies" typeof="skos:Concept" property="rdfs:label skos:prefLabel" datatype="">Peripheral Neuropathies</a></div><div class="field-item odd"><a href="/disease/friedreich%E2%80%99s-ataxia-fa" typeof="skos:Concept" property="rdfs:label skos:prefLabel" datatype="">Friedreich’s Ataxia (FA)</a></div><div class="field-item even"><a href="/disease-name/peripheral-neuropathies" typeof="skos:Concept" property="rdfs:label skos:prefLabel" datatype="">Peripheral Neuropathies</a></div></div></div><div class="field field-name-field-article-link field-type-link-field field-label-above"><div class="field-label">Link:&nbsp;</div><div class="field-items"><div class="field-item even"><a href="http://quest.mda.org/news/fa-rg2833-well-tolerated-increases-frataxin-gene-activity">FA: RG2833 Is Well-Tolerated and Increases Frataxin Gene Activity</a></div></div></div><div class="field field-name-field-guid field-type-number-integer field-label-above"><div class="field-label">GUID:&nbsp;</div><div class="field-items"><div class="field-item even">21 606</div></div></div><div class="field field-name-field-quest-thumbnail-url field-type-text field-label-above"><div class="field-label">Thumbnail:&nbsp;</div><div class="field-items"><div class="field-item even">/sites/default/files/jim-rusche-leadart.jpg</div></div></div><div class="field field-name-field-article-tags field-type-taxonomy-term-reference field-label-above"><div class="field-label">Tags:&nbsp;</div><div class="field-items"><div class="field-item even"><a href="/disease/topic/clinical-trial" typeof="skos:Concept" property="rdfs:label skos:prefLabel" datatype="">clinical trial</a></div><div class="field-item odd"><a href="/disease/topic/research" typeof="skos:Concept" property="rdfs:label skos:prefLabel" datatype="">research</a></div></div></div>Fri, 17 May 2013 16:39:00 +0000mdaadmindfgdg34534432259271 at http://www.mda.org‘Focused, Intense’ MDA Conference Advances Neuromuscular Disease Researchhttp://www.mda.org/quest/focused-intense-mda-conference-advances-neuromuscular-disease-research
<div class="field field-name-body field-type-text-with-summary field-label-hidden"><div class="field-items"><div class="field-item even" property="content:encoded"><p>Turning neuromuscular disease research into treatments as quickly and effectively as possible was the overarching theme of dozens of formal presentations, nearly 200 scientific posters, and countless informal conversations at the MDA Scientific Conference, April 21-24.</p>
<p>A palpable sense of excitement pervaded the sold-out event thanks to the unprecedented number of experimental treatments in clinical trials for neuromuscular diseases, and the unique opportunity the conference provided for information-sharing and collaboration among scientific professionals from many disciplines.</p>
<p>“This is one of the few times that researchers from the different fields of muscular dystrophy get together and compare notes in one place at one time,” commented Ken Hensley, an ALS researcher from University of Toledo Medical Center. “It’s a very focused, intense meeting where we can share the latest in applied and basic biology.”</p>
<table class="photo-table" style="width: 281px; height: 225px;" align="right" border="0"><tbody><tr><td><img src="http://quest.mda.org/files/images/QNOs/young_attendees.jpg" alt="" height="217" width="300" /></td>
</tr><tr><td>Conference attendees included a number of younger researchers.</td>
</tr></tbody></table><p>The biennial conference, held for the first time in Washington, D.C., drew more than 500 participants from the academic, corporate drug development and clinical arenas. (The conference was not open to the general public.) A larger-than-ever number of young researchers were among the attendees this year — a statistic cited by more than one participant as a positive sign for the future of neuromuscular disease research. </p>
<h4 class="article-subhead">Sharing ideas across diseases a priority</h4>
<p>Capitalizing on MDA’s unique status as an umbrella organization covering more than <a href="http://mda.org/disease" target="_blank">40 neuromuscular diseases</a>, the tightly packed <a href="http://mda.org/2013ScientificConference/agenda" target="_blank">agenda</a> focused on common research themes rather than individual diseases.</p>
<p>Sessions were built around such themes as targets for drugs, genetic modifiers, therapeutic modalities, biomarkers, animal models, preclinical work and clinical trials.</p>
<p>Each session featured presentations from researchers working in different neuromuscular diseases, enabling the widest possible sharing of knowledge and ideas.</p>
<p>There was “a real sharing of unpublished data,” said Kay Davies of the University of Oxford, who is working on a treatment for <a href="http://mda.org/disease/duchenne-muscular-dystrophy/overview" target="_blank"><strong>Duchenne muscular dystrophy (DMD)</strong></a>. “People [were] willing to give their ideas and really fight each other to find out which is the best way. Good competition for the same goal. That’s the way we’re going to succeed.”</p>
<h4 class="article-subhead">A rapidly changing research landscape</h4>
<p>A significant amount of research data, published and unpublished, was shared during the two-and-a-half day conference, both from completed trials and trials-in-progress.</p>
<p>“[Research] is going exhilaratingly fast,” said Christopher Pearson of the Hospital for Sick Children at the University of Toronto, who is studying a type of genetic mutation underlying several diseases in MDA’s program, including <a href="http://mda.org/disease/myotonic-muscular-dystrophy/overview" target="_blank"><strong>myotonic</strong></a> and <a href="http://mda.org/disease/oculopharyngeal-muscular-dystrophy/overview" target="_blank"><strong>oculopharyngea</strong></a>l muscular dystrophies and <a href="http://mda.org/disease/friedreichs-ataxia/overview" target="_blank"><strong>Friedreich’s ataxia</strong></a>. “In fact, it’s going so fast that I could spend much of my time reading other people’s work instead of doing my own work. It’s a very exciting time.”</p>
<table class="photo-table" style="width: 272px; height: 251px;" align="right" border="0"><tbody><tr><td><img src="http://quest.mda.org/files/images/QNOs/poster-session.jpg" alt="" height="223" width="300" /></td>
</tr><tr><td>"Cross talk" among researchers studying a variety of neuronmuscular diseases was a hallmark of the conference.</td>
</tr></tbody></table><p>Many speakers made reference to the rapidly changing landscape of research, which has been altered by such factors as technological advances, improvements in clinical trial design, interest by the drug development industry, and the increasing power of the patient’s voice. A commonly heard refrain was “we couldn’t have held this conference five years ago.”</p>
<p>“Many pharmaceutical companies unexpectedly are now targeting <a href="http://mda.org/disease/amyotrophic-lateral-sclerosis/overview" target="_blank"><strong>ALS</strong></a>,” said Jeff Rothstein, director of the Brain Science Institute, and the MDA/ALS Center, both at Johns Hopkins University. “That wasn’t the case a few years ago. They’re very interested in the better science that we can do in ALS today — that is, using cells to discover therapies, using cells to find biomarkers so they can intelligently design trials.”</p>
<p>“It’s a very hopeful time,” agreed Hensley. “Not only is there incredible scientific knowledge that’s blooming forth about the basic origins of these diseases … but there really is a change in the landscape in the way clinical trials are designed, the way that regulatory committees and agencies look at orphan disease therapy development — a whole ‘sea change’ in the way pharmaceutical companies are viewing orphan diseases as an attractive target for new therapeutic technologies.”</p>
<h4 class="article-subhead">Poster session award winners</h4>
<p>In addition to more than 70 session presentations, some 200 scientific posters were displayed at the conference, detailing the results of experiments and trials in a wide range of diseases.</p>
<p>Several posters by research trainees were selected for awards:</p>
<ul><li>Nicolas Wein, “Alternate translational initiation and amelioration of phenotype in the <a href="http://mda.org/disease/duchenne-muscular-dystrophy/overview" target="_blank">DMD</a> gene.”</li>
<li>Shin, Ji-Yeon Shin, “Emerin-LAP1 double knockout mice: a small animal model of X-linked <a href="http://mda.org/disease/Emery-Dreifuss-muscular-dystrophy/overview" target="_blank"><strong>Emery-Dreifuss muscular dystrophy</strong></a>.”</li>
<li>Yun-Sil Lee, “Muscle hypertrophy induced by follistatin and Acvr2B/Fc accelerates degeneration in dysferlin mutant mice” (<a href="http://mda.org/disease/limb-girdle-muscular-dystrophy/overview" target="_blank"><strong>limb-girdle muscular dystrophy (LGMD)</strong></a>, <a href="http://mda.org/disease/distal-muscular-dystrophy/overview" target="_blank"><strong>distal MD</strong></a>.</li>
</ul><h4 class="article-subhead">About the MDA Scientific Conference</h4>
<table class="photo-table" style="width: 310px; height: 244px;" align="right" border="0"><tbody><tr><td><img src="http://quest.mda.org/files/images/QNOs/co-chairs.JPG" alt="" height="200" width="300" /></td>
</tr><tr><td>Conference co-chairs Eric Hoffman (left) and C. Frank Bennett presided over the event.</td>
</tr></tbody></table><p>Co-chairing the conference were C. Frank Bennett, CEO of the biomedical company <a href="http://www.isispharm.com/index.htm" target="_blank">Isis Pharmaceuticals</a>, and Eric Hoffman, director of the <a href="http://www.childrensnational.org/research/ourresearch/centers/geneticmedicine/default.aspx" target="_blank">Center for Genetic Medicine Research</a> at Children's National Medical Center in Washington, D.C.</p>
<p>The event was made possible by the generous support of a number of sponsors.</p>
<ul><li>Platinum sponsor: <a href="http://www.sanofi.us/l/us/en/index.jsp" target="_blank">Sanofi</a>, Bridgewater N.J.</li>
<li>Gold sponsors: <a href="http://www.biogenidec.com/" target="_blank">Biogen Idec</a>, Weston, Mass.; and <a href="http://www.sareptatherapeutics.com/" target="_blank">Sarepta Therapeutics</a>, Cambridge, Mass.</li>
<li>Silver sponsors: <a href="http://www.catabasis.com/" target="_blank">Catabasis</a>, Cambridge, Mass.; <a href="http://www.cytokinetics.com/" target="_blank">Cytokinetics</a>, South San Francisco; <a href="http://www.fatetherapeutics.com/" target="_blank">Fate Therapeutics</a>, San Diego, Calif.; <a href="http://www.pfizer.com/home/" target="_blank">Pfizer</a>, New York; <a href="http://www.shire.com/shireplc/en/home" target="_blank">Shire</a>, Dublin, Ireland; <a href="http://www.ptcbio.com/" target="_blank">PTC Therapeutics</a>, South Plainfield, N.J.; and <a href="http://www.tivorsan.com/" target="_blank">Tivorsan</a> Pharmaceuticals, Providence, R.I.</li>
<li>Additional thanks to: <a href="http://www.armgo.com/" target="_blank">ARMGO Pharma</a>, Tarrytown, N.J.</li>
</ul><p>To learn more about the conference, see:</p>
<ul><li><a href="http://mda.org/2013ScientificConference/agenda" target="_blank">Conference agenda</a></li>
<li><a href="http://mda.org/2013ScientificConference/blogs" target="_blank">MDA Scientific Conference Blogs</a> (for personal perspectives on the proceedings)</li>
</ul><p>MDA holds scientific conferences in odd years and clinical (health-care-focused) conferences in even years. (Visit the <a href="http://mda.org/research/annualconference" target="_blank">MDA annual conference series</a> home page for an overview of the series.)</p>
<h4 class="article-subhead">In summary</h4>
<p>The many reasons for holding an MDA scientific conference were underscored on the last day of the event in a speech made by Vance Taylor, 35, a homeland security consultant in Washington, D.C., who has LGMD.</p>
<p>Taylor showed conference attendees photos of his wife and two children, and then declared: “I want you to give me 50. Not 50 push-ups. Fifty years. I need to make it to my 50th birthday.”</p>
<p><em>In order to cover the large amount of science reported at the conference, in the coming weeks MDA will be posting new articles and updating older articles with new information</em>.<em> Be sure to check <a href="http://mda.org" target="_blank">mda.org</a> for the latest neuromuscular disease research news.</em></p>
</div></div></div><div class="field field-name-field-article-disease field-type-taxonomy-term-reference field-label-above"><div class="field-label">Disease:&nbsp;</div><div class="field-items"><div class="field-item even"><a href="/disease-name/acid-maltase-deficiency-amd" typeof="skos:Concept" property="rdfs:label skos:prefLabel" datatype="">Acid Maltase Deficiency (AMD)</a></div><div class="field-item odd"><a href="/taxonomy/term/76" typeof="skos:Concept" property="rdfs:label skos:prefLabel" datatype="">Amyotrophic Lateral Sclerosis (ALS)</a></div><div class="field-item even"><a href="/disease-name/becker-muscular-dystrophy-bmd" typeof="skos:Concept" property="rdfs:label skos:prefLabel" datatype="">Becker Muscular Dystrophy (BMD)</a></div><div class="field-item odd"><a href="/disease-name/central-core-disease-ccd" typeof="skos:Concept" property="rdfs:label skos:prefLabel" datatype="">Central Core Disease (CCD)</a></div><div class="field-item even"><a href="/disease-name/centronuclear-myopathy" typeof="skos:Concept" property="rdfs:label skos:prefLabel" datatype="">Centronuclear Myopathy</a></div><div class="field-item odd"><a href="/disease-name/charcot-marie-tooth-disease-cmt" typeof="skos:Concept" property="rdfs:label skos:prefLabel" datatype="">Charcot-Marie-Tooth Disease (CMT)</a></div><div class="field-item even"><a href="/disease-name/congenital-myasthenic-syndromes-cms" typeof="skos:Concept" property="rdfs:label skos:prefLabel" datatype="">Congenital Myasthenic Syndromes (CMS)</a></div><div class="field-item odd"><a href="/disease-name/cori-disease-debrancher-enzyme-deficiency" typeof="skos:Concept" property="rdfs:label skos:prefLabel" datatype="">Cori Disease (Debrancher Enzyme Deficiency)</a></div><div class="field-item even"><a href="/disease-name/dermatomyositis-dm" typeof="skos:Concept" property="rdfs:label skos:prefLabel" datatype="">Dermatomyositis (DM)</a></div><div class="field-item odd"><a href="/disease-name/endocrine-myopathies" typeof="skos:Concept" property="rdfs:label skos:prefLabel" datatype="">Endocrine Myopathies</a></div><div class="field-item even"><a href="/disease-name/hyperthyroid-myopathy" typeof="skos:Concept" property="rdfs:label skos:prefLabel" datatype="">Hyperthyroid Myopathy</a></div><div class="field-item odd"><a href="/disease-name/inflammatory-myopathies" typeof="skos:Concept" property="rdfs:label skos:prefLabel" datatype="">Inflammatory Myopathies</a></div><div class="field-item even"><a href="/disease-name/mitochondrial-encephalomyopathy-lactic-acidosis-and-strokelike-episodes-melas" typeof="skos:Concept" property="rdfs:label skos:prefLabel" datatype="">Mitochondrial Encephalomyopathy, Lactic Acidosis and Strokelike Episodes (MELAS)</a></div><div class="field-item odd"><a href="/disease-name/muscular-dystrophies" typeof="skos:Concept" property="rdfs:label skos:prefLabel" datatype="">Muscular Dystrophies</a></div><div class="field-item even"><a href="/disease-name/neuromuscular-junction-diseases" typeof="skos:Concept" property="rdfs:label skos:prefLabel" datatype="">Neuromuscular Junction Diseases</a></div><div class="field-item odd"><a href="/disease-name/other-myopathies" typeof="skos:Concept" property="rdfs:label skos:prefLabel" datatype="">Other Myopathies</a></div><div class="field-item even"><a href="/disease-name/peripheral-neuropathies" typeof="skos:Concept" property="rdfs:label skos:prefLabel" datatype="">Peripheral Neuropathies</a></div><div class="field-item odd"><a href="/disease-name/pompe-disease-acid-maltase-deficiency" typeof="skos:Concept" property="rdfs:label skos:prefLabel" datatype="">Pompe Disease (Acid Maltase Deficiency)</a></div><div class="field-item even"><a href="/disease-name/tarui-disease-phosphofructokinase-deficiency" typeof="skos:Concept" property="rdfs:label skos:prefLabel" datatype="">Tarui Disease (Phosphofructokinase Deficiency)</a></div><div class="field-item odd"><a href="/disease-name/carnitine-deficiency" typeof="skos:Concept" property="rdfs:label skos:prefLabel" datatype="">Carnitine Deficiency</a></div><div class="field-item even"><a href="/disease-name/congenital-muscular-dystrophy-cmd" typeof="skos:Concept" property="rdfs:label skos:prefLabel" datatype="">Congenital Muscular Dystrophy (CMD)</a></div><div class="field-item odd"><a href="/disease-name/dejerine-sottas-disease-dsd" typeof="skos:Concept" property="rdfs:label skos:prefLabel" datatype="">Dejerine-Sottas Disease (DSD)</a></div><div class="field-item even"><a href="/disease-name/forbes-disease-debrancher-enzyme-deficiency" typeof="skos:Concept" property="rdfs:label skos:prefLabel" datatype="">Forbes Disease (Debrancher Enzyme Deficiency)</a></div><div class="field-item odd"><a href="/disease-name/hypothyroid-myopathy" typeof="skos:Concept" property="rdfs:label skos:prefLabel" datatype="">Hypothyroid Myopathy</a></div><div class="field-item even"><a href="/disease-name/inclusion-body-myositis-ibm" typeof="skos:Concept" property="rdfs:label skos:prefLabel" datatype="">Inclusion-Body Myositis (IBM)</a></div><div class="field-item odd"><a href="/disease-name/mitochondrial-neurogastrointestinal-encephalomyopathy-mngie" typeof="skos:Concept" property="rdfs:label skos:prefLabel" datatype="">Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE)</a></div><div class="field-item even"><a href="/disease-name/myasthenia-gravis-mg" typeof="skos:Concept" property="rdfs:label skos:prefLabel" datatype="">Myasthenia Gravis (MG)</a></div><div class="field-item odd"><a href="/disease-name/nemaline-myopathy" typeof="skos:Concept" property="rdfs:label skos:prefLabel" datatype="">Nemaline Myopathy</a></div><div class="field-item even"><a href="/disease-name/spinal-muscular-atrophy-sma" typeof="skos:Concept" property="rdfs:label skos:prefLabel" datatype="">Spinal Muscular Atrophy (SMA)</a></div><div class="field-item odd"><a href="/disease-name/carnitine-palmityl-transferase-deficiency" typeof="skos:Concept" property="rdfs:label skos:prefLabel" datatype="">Carnitine Palmityl Transferase Deficiency (CPT Deficiency)</a></div><div class="field-item even"><a href="/disease-name/distal-muscular-dystrophy-dd" typeof="skos:Concept" property="rdfs:label skos:prefLabel" datatype="">Distal Muscular Dystrophy (DD)</a></div><div class="field-item odd"><a href="/disease/friedreich%E2%80%99s-ataxia-fa" typeof="skos:Concept" property="rdfs:label skos:prefLabel" datatype="">Friedreich’s Ataxia (FA)</a></div><div class="field-item even"><a href="/disease-name/lambert-eaton-myasthenic-syndrome-lems" typeof="skos:Concept" property="rdfs:label skos:prefLabel" datatype="">Lambert-Eaton Myasthenic Syndrome (LEMS)</a></div><div class="field-item odd"><a href="/disease-name/mcardle-disease-phosphorylase-deficiency" typeof="skos:Concept" property="rdfs:label skos:prefLabel" datatype="">McArdle Disease (Phosphorylase Deficiency)</a></div><div class="field-item even"><a href="/disease-name/mitochondrial-dna-depletion-syndrome-mds" typeof="skos:Concept" property="rdfs:label skos:prefLabel" datatype="">Mitochondrial DNA Depletion Syndrome (MDS)</a></div><div class="field-item odd"><a href="/disease-name/myotubular-myopathy-mtm-or-mm" typeof="skos:Concept" property="rdfs:label skos:prefLabel" datatype="">Myotubular Myopathy (MTM or MM)</a></div><div class="field-item even"><a href="/disease-name/polymyositis-pm" typeof="skos:Concept" property="rdfs:label skos:prefLabel" datatype="">Polymyositis (PM)</a></div><div class="field-item odd"><a href="/disease-name/spinal-bulbar-muscular-atrophy-sbma" typeof="skos:Concept" property="rdfs:label skos:prefLabel" datatype="">Spinal-Bulbar Muscular Atrophy (SBMA)</a></div><div class="field-item even"><a href="/disease-name/congenital-myotonic-dystrophy" typeof="skos:Concept" property="rdfs:label skos:prefLabel" datatype="">Congenital Myotonic Dystrophy</a></div><div class="field-item odd"><a href="/disease-name/debrancher-enzyme-deficiency" typeof="skos:Concept" property="rdfs:label skos:prefLabel" datatype="">Debrancher Enzyme Deficiency</a></div><div class="field-item even"><a href="/disease-name/duchenne-muscular-dystrophy-dmd" typeof="skos:Concept" property="rdfs:label skos:prefLabel" datatype="">Duchenne Muscular Dystrophy (DMD)</a></div><div class="field-item odd"><a href="/disease/myophosphorylase-deficiency" typeof="skos:Concept" property="rdfs:label skos:prefLabel" datatype="">Myophosphorylase Deficiency</a></div><div class="field-item even"><a href="/disease-name/myotonia-congenita-mc" typeof="skos:Concept" property="rdfs:label skos:prefLabel" datatype="">Myotonia Congenita (MC)</a></div><div class="field-item odd"><a href="/disease-name/emery-dreifuss-muscular-dystrophy-edmd" typeof="skos:Concept" property="rdfs:label skos:prefLabel" datatype="">Emery-Dreifuss Muscular Dystrophy (EDMD)</a></div><div class="field-item even"><a href="/disease-name/lactate-dehydrogenase-deficiency" typeof="skos:Concept" property="rdfs:label skos:prefLabel" datatype="">Lactate Dehydrogenase Deficiency</a></div><div class="field-item odd"><a href="/disease-name/paramyotonia-congenita" typeof="skos:Concept" property="rdfs:label skos:prefLabel" datatype="">Paramyotonia Congenita</a></div><div class="field-item even"><a href="/disease-name/facioscapulohumeral-muscular-dystrophy-fsh-or-fshd" typeof="skos:Concept" property="rdfs:label skos:prefLabel" datatype="">Facioscapulohumeral Muscular Dystrophy (FSH or FSHD)</a></div><div class="field-item odd"><a href="/disease-name/mitochondrial-myopathy" typeof="skos:Concept" property="rdfs:label skos:prefLabel" datatype="">Mitochondrial Myopathy</a></div><div class="field-item even"><a href="/disease-name/periodic-paralysis" typeof="skos:Concept" property="rdfs:label skos:prefLabel" datatype="">Periodic Paralysis</a></div><div class="field-item odd"><a href="/disease-name/limb-girdle-muscular-dystrophy-lgmd" typeof="skos:Concept" property="rdfs:label skos:prefLabel" datatype="">Limb-Girdle Muscular Dystrophy (LGMD)</a></div><div class="field-item even"><a href="/disease-name/myoadenylate-deaminase-deficiency" typeof="skos:Concept" property="rdfs:label skos:prefLabel" datatype="">Myoadenylate Deaminase Deficiency</a></div><div class="field-item odd"><a href="/disease-name/myotonic-muscular-dystrophy-mmd" typeof="skos:Concept" property="rdfs:label skos:prefLabel" datatype="">Myotonic Muscular Dystrophy (MMD)</a></div><div class="field-item even"><a href="/disease-name/phosphorylase-deficiency" typeof="skos:Concept" property="rdfs:label skos:prefLabel" datatype="">Phosphorylase Deficiency</a></div><div class="field-item odd"><a href="/disease-name/kearns-sayre-syndrome-kss" typeof="skos:Concept" property="rdfs:label skos:prefLabel" datatype="">Kearns-Sayre Syndrome (KSS)</a></div><div class="field-item even"><a href="/disease-name/metabolic-diseases-muscle" typeof="skos:Concept" property="rdfs:label skos:prefLabel" datatype="">Metabolic Diseases of Muscle</a></div><div class="field-item odd"><a href="/disease-name/oculopharyngeal-muscular-dystrophy-opmd" typeof="skos:Concept" property="rdfs:label skos:prefLabel" datatype="">Oculopharyngeal Muscular Dystrophy (OPMD)</a></div><div class="field-item even"><a href="/disease-name/phosphofructokinase-deficiency" typeof="skos:Concept" property="rdfs:label skos:prefLabel" datatype="">Phosphofructokinase Deficiency</a></div><div class="field-item odd"><a href="/disease-name/leigh-syndrome-and-maternally-inherited-leigh-syndrome-mils" typeof="skos:Concept" property="rdfs:label skos:prefLabel" datatype="">Leigh Syndrome and Maternally-Inherited Leigh Syndrome (MILS)</a></div><div class="field-item even"><a href="/disease-name/phosphoglycerate-kinase-deficiency" typeof="skos:Concept" property="rdfs:label skos:prefLabel" datatype="">Phosphoglycerate Kinase Deficiency</a></div><div class="field-item odd"><a href="/disease-name/phosphoglycerate-mutase-deficiency" typeof="skos:Concept" property="rdfs:label skos:prefLabel" datatype="">Phosphoglycerate Mutase Deficiency</a></div><div class="field-item even"><a href="/disease-name/myoclonus-epilepsy-ragged-red-fibers-merrf" typeof="skos:Concept" property="rdfs:label skos:prefLabel" datatype="">Myoclonus Epilepsy with Ragged Red Fibers (MERRF)</a></div><div class="field-item odd"><a href="/disease-name/progressive-external-ophthalmoplegia-peo" typeof="skos:Concept" property="rdfs:label skos:prefLabel" datatype="">Progressive External Ophthalmoplegia (PEO)</a></div><div class="field-item even"><a href="/disease-name/pearson-syndrome" typeof="skos:Concept" property="rdfs:label skos:prefLabel" datatype="">Pearson Syndrome</a></div></div></div><div class="field field-name-field-article-link field-type-link-field field-label-above"><div class="field-label">Link:&nbsp;</div><div class="field-items"><div class="field-item even"><a href="http://quest.mda.org/news/mda-conference-advances-neuromuscular-disease-research">‘Focused, Intense’ MDA Conference Advances Neuromuscular Disease Research</a></div></div></div><div class="field field-name-field-guid field-type-number-integer field-label-above"><div class="field-label">GUID:&nbsp;</div><div class="field-items"><div class="field-item even">21 586</div></div></div><div class="field field-name-field-quest-thumbnail-url field-type-text field-label-above"><div class="field-label">Thumbnail:&nbsp;</div><div class="field-items"><div class="field-item even">/sites/default/files/QNO_leadart.jpg</div></div></div><div class="field field-name-field-article-tags field-type-taxonomy-term-reference field-label-above"><div class="field-label">Tags:&nbsp;</div><div class="field-items"><div class="field-item even"><a href="/disease/topic/research" typeof="skos:Concept" property="rdfs:label skos:prefLabel" datatype="">research</a></div></div></div>Thu, 25 Apr 2013 16:51:00 +0000mdaadmindfgdg34534432259106 at http://www.mda.orgMDA Scientific Conference To Emphasize Therapy Developmenthttp://www.mda.org/quest/mda-scientific-conference-emphasize-therapy-development
<div class="field field-name-body field-type-text-with-summary field-label-hidden"><div class="field-items"><div class="field-item even" property="content:encoded"><p>The Muscular Dystrophy Association’s annual conference being held in Washington, D.C., on April 21-24, 2013, is centered on the theme <em>Therapy Development for Neuromuscular Diseases: Translating Hope into Promise</em>.</p>
<p>"Five years ago, this meeting couldn’t have happened," said Jane Larkindale, MDA's vice president of research. "We couldn’t have filled two-and-a-half days with the kinds of presentations we have now. The agenda is packed with important talks discussing everything from early-stage therapeutic targets through to clinical trial results, along with sessions discussing the development of new tools that will allow us to conduct trials more effectively." </p>
<p>The conference is aimed at professionals and is not open to the public. However, blogs and reports will be available to all on the <a href="http://mda.org/2013ScientificConference/overview" target="_blank">meeting website</a>, both during and after the proceedings.</p>
<p>Nearly 500 attendees from academic laboratories, clinics and industry are expected, with more than 60 platform presentations and more than 200 poster presentations planned.</p>
<p>The goal, said Larkindale, is to “identify barriers to therapeutic development and how to overcome those barriers.”</p>
<p>Conference co-chairs are C. Frank Bennett, CEO of the biomedical company Isis Pharmaceuticals, and Eric Hoffman, director of the Research Center for Genetic Medicine at Children's National Medical Center in Washington, D.C.</p>
<h4 class="article-subhead">From targets to trials</h4>
<p>Conference presentations have been organized into broad themes relating to therapy development.</p>
<p><strong>Targets:</strong> These presentations will focus on identifying molecular targets at which to aim therapies in different disorders, such as <a href="http://mda.org/disease/amyotrophic-lateral-sclerosis/overview" target="_blank"><strong>amyotrophic lateral sclerosis (ALS)</strong></a>, <a href="http://www.mda.org/disease/charcot-marie-tooth/overview" target="_blank"><strong>Charcot-Marie-Tooth disease (CMT)</strong></a>, <a href="http://www.mda.org/disease/fsh-muscular-dystrophy/overview" target="_blank"><strong>facioscapulohumeral muscular dystrophy (FSHD)</strong></a>, <a href="http://mda.org/disease/myotonic-muscular-dystrophy/overview" target="_blank"><strong>myotonic muscular dystrophy (MMD)</strong></a> and <a href="http://www.mda.org/disease/spinal-muscular-atrophy/overview" target="_blank"><strong>spinal muscular atrophy (SMA)</strong></a>.</p>
<p><strong>Genetic modifiers: </strong>Presentations will explore naturally occurring gene variations that modify the course of diseases and can help explain an individual's disease course, as well as provide targets for therapeutic development, in disorders such as ALS, <a href="http://www.mda.org/disease/becker-muscular-dystrophy/overview" target="_blank"><strong>Becker muscular dystrophy (BMD)</strong></a>, <a href="http://www.mda.org/disease/duchenne-muscular-dystrophy/overview" target="_blank"><strong>Duchenne muscular dystrophy (DMD)</strong></a>, SMA and MMD.</p>
<p><strong>Therapeutic modalities</strong>: Presentations will focus on different types of compounds that have the potential to be developed into therapies, such as <a class="definition" title="cells at an early stage of development from which specialized cells, such as muscle or nerve cells, can develop">stem cells</a>, proteins, small molecules and <a class="definition" title="pieces of genetic information that keep other genetic information from being processed">antisense</a>, with particular application to ALS, one form of <a href="http://mda.org/disease/congenital-muscular-dystrophy/overview" target="_blank"><strong>congenital muscular dystrophy (CMD)</strong></a>, DMD and FSHD.</p>
<p><a href="http://quest.mda.org/article/whats-biomarker" target="_self"><strong>Biomarkers</strong></a>: Presentations will discuss the identification and use of biological indicators, including imaging studies, which may reflect the progress of a disease or its response to treatment, with particular application to ALS and DMD.</p>
<p><strong>Animal models</strong>: Discussions will center on research animals that replicate the characteristics of various human neuromuscular diseases and how they can be used to study these diseases, with particular application to ALS, <a href="http://www.mda.org/disease/inherited-and-endocrine-myopathies/centronuclear-myotubular" target="_blank"><strong>centronuclear myopathy (CNM)</strong></a>, DMD, <a href="http://www.mda.org/disease/emery-dreifuss-muscular-dystrophy/overview" target="_blank"><strong>Emery-Dreifuss muscular dystrophy (EDMD)</strong></a> and SMA.</p>
<p><strong>Use of animal models in drug development</strong>: Presenters will explore how well animal models of human disorders can be used to develop drugs, with particular application to ALS, DMD FSHD, <a href="http://www.mda.org/disease/inherited-and-endocrine-myopathies/centronuclear-myotubular" target="_blank"><strong>myotubular myopathy (MTM)</strong></a> and SMA.</p>
<p><strong>Preclinical work for trial design and regulation</strong>: Designing laboratory studies that can serve as the foundation for human trials of investigational drugs will be focus of these talks.</p>
<p><a class="definition" title="tests, in humans, of an experimental treatment"><strong>Clinical trials</strong></a>: These presentations will include updates on trials of <a href="http://alsn.mda.org/news/als-briefs-clinical-trial-updates-2012-alsmnd-symposium/#tirasemtiv" target="_blank"><em>tirasemtiv</em></a> in ALS; <a href="http://quest.mda.org/news/dmd-drisapersen-outperforms-placebo-walking-test" target="_self"><em>drisapersen</em></a> and <a href="http://quest.mda.org/news/dmd-eteplirsen-shows-continued-benefit-74-weeks" target="_self"><em>eteplirsen</em></a> in DMD; <a href="http://quest.mda.org/news/experts-gather-focus-heart-dmd" target="_self"><em>cardiac treatments</em></a> for DMD; <a href="http://quest.mda.org/news/repligen-launches-italian-trial-experimental-drug-fa" target="_self"><em>RG2833</em></a> for <a href="http://www.mda.org/disease/friedreichs-ataxia/overview" target="_blank"><strong>Friedreich's ataxia (FA)</strong></a>; and <a href="http://quest.mda.org/news/sma-antisense-drug-shows-safety-tolerability-phase-1-trial" target="_self"><em>ISIS-SMNRx</em></a> for SMA.</p>
<p><strong>The latest and greatest</strong>: Discussions will include late-breaking research reports, with particular application to CNM, DMD, FA and <a href="http://www.mda.org/disease/mitochondrial-myopathies/overview" target="_blank"><strong>mitochondrial myopathies</strong></a>.</p>
<p><strong>Resources for drug development</strong>: Topics to be covered include working with the National Institutes of Health's <a href="http://www.ncats.nih.gov/" target="_blank">National Center for Advancing Translational Sciences (NCATS)</a>, tissue banks, stem cells, databases, and computer chips, with particular application to ALS.</p>
<h4 class="article-subhead">For more information</h4>
<p>To learn more and to read blogs and reports during and after the meeting, see the <a href="http://www.mda.org/2013ScientificConference/overview" target="_blank">MDA Scientific Conference home page</a>.</p>
<p>This conference is the third in <a href="http://mda.org/research/annualconference" target="_blank">MDA's conference series</a>, which features scientific (research-oriented) conferences in odd-numbered years, and clinical (care-oriented) conferences in even-numbered years.</p>
</div></div></div><div class="field field-name-field-article-disease field-type-taxonomy-term-reference field-label-above"><div class="field-label">Disease:&nbsp;</div><div class="field-items"><div class="field-item even"><a href="/taxonomy/term/76" typeof="skos:Concept" property="rdfs:label skos:prefLabel" datatype="">Amyotrophic Lateral Sclerosis (ALS)</a></div><div class="field-item odd"><a href="/disease-name/becker-muscular-dystrophy-bmd" typeof="skos:Concept" property="rdfs:label skos:prefLabel" datatype="">Becker Muscular Dystrophy (BMD)</a></div><div class="field-item even"><a href="/disease-name/centronuclear-myopathy" typeof="skos:Concept" property="rdfs:label skos:prefLabel" datatype="">Centronuclear Myopathy</a></div><div class="field-item odd"><a href="/disease-name/charcot-marie-tooth-disease-cmt" typeof="skos:Concept" property="rdfs:label skos:prefLabel" datatype="">Charcot-Marie-Tooth Disease (CMT)</a></div><div class="field-item even"><a href="/disease-name/muscular-dystrophies" typeof="skos:Concept" property="rdfs:label skos:prefLabel" datatype="">Muscular Dystrophies</a></div><div class="field-item odd"><a href="/disease-name/other-myopathies" typeof="skos:Concept" property="rdfs:label skos:prefLabel" datatype="">Other Myopathies</a></div><div class="field-item even"><a href="/disease-name/peripheral-neuropathies" typeof="skos:Concept" property="rdfs:label skos:prefLabel" datatype="">Peripheral Neuropathies</a></div><div class="field-item odd"><a href="/disease-name/congenital-muscular-dystrophy-cmd" typeof="skos:Concept" property="rdfs:label skos:prefLabel" datatype="">Congenital Muscular Dystrophy (CMD)</a></div><div class="field-item even"><a href="/disease-name/spinal-muscular-atrophy-sma" typeof="skos:Concept" property="rdfs:label skos:prefLabel" datatype="">Spinal Muscular Atrophy (SMA)</a></div><div class="field-item odd"><a href="/disease/friedreich%E2%80%99s-ataxia-fa" typeof="skos:Concept" property="rdfs:label skos:prefLabel" datatype="">Friedreich’s Ataxia (FA)</a></div><div class="field-item even"><a href="/disease-name/myotubular-myopathy-mtm-or-mm" typeof="skos:Concept" property="rdfs:label skos:prefLabel" datatype="">Myotubular Myopathy (MTM or MM)</a></div><div class="field-item odd"><a href="/disease-name/duchenne-muscular-dystrophy-dmd" typeof="skos:Concept" property="rdfs:label skos:prefLabel" datatype="">Duchenne Muscular Dystrophy (DMD)</a></div><div class="field-item even"><a href="/disease-name/emery-dreifuss-muscular-dystrophy-edmd" typeof="skos:Concept" property="rdfs:label skos:prefLabel" datatype="">Emery-Dreifuss Muscular Dystrophy (EDMD)</a></div><div class="field-item odd"><a href="/disease-name/facioscapulohumeral-muscular-dystrophy-fsh-or-fshd" typeof="skos:Concept" property="rdfs:label skos:prefLabel" datatype="">Facioscapulohumeral Muscular Dystrophy (FSH or FSHD)</a></div><div class="field-item even"><a href="/disease-name/myotonic-muscular-dystrophy-mmd" typeof="skos:Concept" property="rdfs:label skos:prefLabel" datatype="">Myotonic Muscular Dystrophy (MMD)</a></div></div></div><div class="field field-name-field-article-link field-type-link-field field-label-above"><div class="field-label">Link:&nbsp;</div><div class="field-items"><div class="field-item even"><a href="http://quest.mda.org/news/mda-scientific-conference-emphasize-therapy-development">MDA Scientific Conference To Emphasize Therapy Development</a></div></div></div><div class="field field-name-field-guid field-type-number-integer field-label-above"><div class="field-label">GUID:&nbsp;</div><div class="field-items"><div class="field-item even">21 571</div></div></div><div class="field field-name-field-quest-thumbnail-url field-type-text field-label-above"><div class="field-label">Thumbnail:&nbsp;</div><div class="field-items"><div class="field-item even">/sites/default/files/Scientific%20conference%20QNO%20lead%20art.JPG</div></div></div><div class="field field-name-field-article-tags field-type-taxonomy-term-reference field-label-above"><div class="field-label">Tags:&nbsp;</div><div class="field-items"><div class="field-item even"><a href="/disease/topic/research" typeof="skos:Concept" property="rdfs:label skos:prefLabel" datatype="">research</a></div></div></div>Thu, 18 Apr 2013 10:03:00 +0000mdaadmindfgdg34534432258731 at http://www.mda.orgNew Guidelines on Genetic Testing in Childrenhttp://www.mda.org/quest/new-guidelines-genetic-testing-children
<div class="field field-name-body field-type-text-with-summary field-label-hidden"><div class="field-items"><div class="field-item even" property="content:encoded"><p>As scientists learn more about what our DNA can tell us about health and disease, public interest has intensified and genetic testing has become increasingly common. In response, the <a href="http://www.aap.org" target="_blank">American Academy of Pediatrics (AAP)</a> and the <a href="http://www.acmg.net/AM/Template.cfm?Section=Home3" target="_blank">American College of Medical Genetics and Genomics (ACMG)</a> have released new guidelines to address updated technologies and new uses of genetic testing and screening in children.</p>
<p>New recommendations address diagnostic and carrier testing; newborn screening; predictive genetic testing (which may identify a child’s risk of developing later- or adult-onset conditions); histocompatibility testing (sometimes referred to as “tissue matching”); adoption; the sharing of test results; paternity testing; and direct-to-consumer testing, which refers to tests marketed directly to the public.</p>
<p>Those considering genetic testing should speak with their physician.</p>
<h4 class="article-subhead">Genetic testing in newborns and children</h4>
<p>According to the AAP, approximately 4 million infants in the United States undergo newborn screening, which is designed to detect abnormalities for which a treatment is available and which would benefit from being treated early, before symptoms begin.</p>
<p>Genetic testing of children past the newborn stage is not as common. It’s most often used to diagnose genetic conditions in children who have signs or symptoms, or to inform treatment decisions.</p>
<p>Testing may also be performed on children who don’t have symptoms, but whose family history includes instances of a specific genetic condition — particularly if early treatment can affect quality of life or life span.</p>
<h4 class="article-subhead">The child’s best interests always should come first</h4>
<p>In their <strong>general recommendations</strong>, both the AAP and ACMG noted that with DNA testing, the best interests of the child always should come first. Additionally, they recommend that genetic counseling accompany genetic testing, as clinical geneticists, genetic counselors or other health care providers with appropriate training and expertise can help obtain and interpret test results.</p>
<p>In addition, the two groups recommend the following:</p>
<p><strong>Diagnostic testing</strong> may be done to diagnose disease in children who have symptoms of a genetic condition, or to help determine proper therapy. In these cases, parents should be informed about any risks or benefits. Their permission — as well as the assent of the child, when appropriate — must be obtained.</p>
<p><strong>Newborn screening (NBS)</strong> should be offered for all children. Parents should be advised of NBS benefits, risks and the steps that follow abnormal screening results. The decision of informed parents to refuse the procedure should be respected.</p>
<p>Unless it can lead to health benefits during childhood, <strong>carrier testing</strong> should not be performed on children. Genetic testing or screening for carrier status should be offered to pregnant adolescents or adolescents who are considering having children when clinically indicated, and the risks and benefits should be explained clearly.</p>
<p>Parents may authorize <strong>predictive genetic testing</strong> for children who don’t have symptoms but are at risk of childhood-onset conditions. Testing for adult-onset conditions should wait unless interventions made during childhood can offer benefits. Exceptions may be made in cases where diagnostic uncertainty poses a significant psychosocial burden.</p>
<p><strong>Histocompatibility testing</strong> (also known as tissue compatibility or tissue-matching) is permissible when it benefits immediate family members, but the interests of the child should be safeguarded and such testing only should be conducted after psychosocial, emotional and physical implications have been considered.</p>
<p><strong>Adoption</strong>: For adopted children, and those awaiting adoption, the same considerations for genetic testing of biological children should apply. It should be recognized that predictive genetic testing before adoption may be in a child’s best interests, as it can help ensure his or her placement with a family capable of handling the potential medical circumstances.</p>
<p><strong>Disclosure</strong>: Children should be informed of their test results at an appropriate age. Under most circumstances, a request by a mature adolescent for test results should be honored. In addition, results from genetic testing of a child may have implications for the parents and other family members. Health care providers have an obligation to inform parents and the child, when appropriate, about such implications; they should encourage patients and families to share this information and offer to help explain the results to the extended family or refer them for genetic counseling.</p>
<p>AAP and ACMG strongly discourage the use of <strong>direct-to-consumer and home-kit genetic testing</strong> of children, due to a lack of oversight on test content, accuracy and interpretation.</p>
<h4 class="article-subhead">For more information</h4>
<p>Full reports from both the AAP and ACMG are available online for free. </p>
<p>The AAP summary report, <a href="http://pediatrics.aappublications.org/content/early/2013/02/17/peds.2012-3680" target="_blank">Ethical and Policy Issues in Genetic Testing and Screening of Children</a>, was published online Feb. 21, 2013, in Pediatrics.</p>
<p>The ACMG policy statement, which provides ethical explanations and empirical data in support of the new recommendations, also was published online Feb. 21, 2013, in Genetics in Medicine. Read the full report titled <a href="http://www.acmg.net/docs/Genetic_Testing_in_Children_preprint_gim2012176a.pdf" target="_blank">Technical Report: Ethical and Policy Issues in Genetic Testing and Screening of Children</a>.</p>
<p>Also see:</p>
<ul><li><a href="http://quest.mda.org/article/do-you-really-want-know" target="_self">The Pain and Promise of Prenatal and Newborn Genetic Diagnosis</a> (Quest, July 1, 2007); and</li>
<li><a href="http://www.mda.org/newborn-screening/newborn-screening-neuromuscular-diseases" target="_blank">Screening Newborns for Neuromuscular Diseases Has Pros and Cons</a> (MDA newborn screening resources).</li>
</ul><p>Additional information on newborn screening is available at the website for the <a href="http://www.hrsa.gov/advisorycommittees/mchbadvisory/heritabledisorders/" target="_blank">Secretary’s Advisory Committee on Heritable Disorders in Newborns and Children</a>.</p>
</div></div></div><div class="field field-name-field-article-disease field-type-taxonomy-term-reference field-label-above"><div class="field-label">Disease:&nbsp;</div><div class="field-items"><div class="field-item even"><a href="/disease-name/acid-maltase-deficiency-amd" typeof="skos:Concept" property="rdfs:label skos:prefLabel" datatype="">Acid Maltase Deficiency (AMD)</a></div><div class="field-item odd"><a href="/taxonomy/term/76" typeof="skos:Concept" property="rdfs:label skos:prefLabel" datatype="">Amyotrophic Lateral Sclerosis (ALS)</a></div><div class="field-item even"><a href="/disease-name/becker-muscular-dystrophy-bmd" typeof="skos:Concept" property="rdfs:label skos:prefLabel" datatype="">Becker Muscular Dystrophy (BMD)</a></div><div class="field-item odd"><a href="/disease-name/central-core-disease-ccd" typeof="skos:Concept" property="rdfs:label skos:prefLabel" datatype="">Central Core Disease (CCD)</a></div><div class="field-item even"><a href="/disease-name/charcot-marie-tooth-disease-cmt" typeof="skos:Concept" property="rdfs:label skos:prefLabel" datatype="">Charcot-Marie-Tooth Disease (CMT)</a></div><div class="field-item odd"><a href="/disease-name/congenital-myasthenic-syndromes-cms" typeof="skos:Concept" property="rdfs:label skos:prefLabel" datatype="">Congenital Myasthenic Syndromes (CMS)</a></div><div class="field-item even"><a href="/disease-name/endocrine-myopathies" typeof="skos:Concept" property="rdfs:label skos:prefLabel" datatype="">Endocrine Myopathies</a></div><div class="field-item odd"><a href="/disease-name/endocrine-myopathies" typeof="skos:Concept" property="rdfs:label skos:prefLabel" datatype="">Endocrine Myopathies</a></div><div class="field-item even"><a href="/disease-name/inflammatory-myopathies" typeof="skos:Concept" property="rdfs:label skos:prefLabel" datatype="">Inflammatory Myopathies</a></div><div class="field-item odd"><a href="/disease-name/muscular-dystrophies" typeof="skos:Concept" property="rdfs:label skos:prefLabel" datatype="">Muscular Dystrophies</a></div><div class="field-item even"><a href="/disease-name/neuromuscular-junction-diseases" typeof="skos:Concept" property="rdfs:label skos:prefLabel" datatype="">Neuromuscular Junction Diseases</a></div><div class="field-item odd"><a href="/disease-name/other-myopathies" typeof="skos:Concept" property="rdfs:label skos:prefLabel" datatype="">Other Myopathies</a></div><div class="field-item even"><a href="/disease-name/peripheral-neuropathies" typeof="skos:Concept" property="rdfs:label skos:prefLabel" datatype="">Peripheral Neuropathies</a></div><div class="field-item odd"><a href="/disease-name/congenital-muscular-dystrophy-cmd" typeof="skos:Concept" property="rdfs:label skos:prefLabel" datatype="">Congenital Muscular Dystrophy (CMD)</a></div><div class="field-item even"><a href="/disease-name/dejerine-sottas-disease-dsd" typeof="skos:Concept" property="rdfs:label skos:prefLabel" datatype="">Dejerine-Sottas Disease (DSD)</a></div><div class="field-item odd"><a href="/disease-name/inclusion-body-myositis-ibm" typeof="skos:Concept" property="rdfs:label skos:prefLabel" datatype="">Inclusion-Body Myositis (IBM)</a></div><div class="field-item even"><a href="/disease-name/nemaline-myopathy" typeof="skos:Concept" property="rdfs:label skos:prefLabel" datatype="">Nemaline Myopathy</a></div><div class="field-item odd"><a href="/disease-name/spinal-muscular-atrophy-sma" typeof="skos:Concept" property="rdfs:label skos:prefLabel" datatype="">Spinal Muscular Atrophy (SMA)</a></div><div class="field-item even"><a href="/disease-name/distal-muscular-dystrophy-dd" typeof="skos:Concept" property="rdfs:label skos:prefLabel" datatype="">Distal Muscular Dystrophy (DD)</a></div><div class="field-item odd"><a href="/disease/friedreich%E2%80%99s-ataxia-fa" typeof="skos:Concept" property="rdfs:label skos:prefLabel" datatype="">Friedreich’s Ataxia (FA)</a></div><div class="field-item even"><a href="/disease-name/myotubular-myopathy-mtm-or-mm" typeof="skos:Concept" property="rdfs:label skos:prefLabel" datatype="">Myotubular Myopathy (MTM or MM)</a></div><div class="field-item odd"><a href="/disease-name/spinal-bulbar-muscular-atrophy-sbma" typeof="skos:Concept" property="rdfs:label skos:prefLabel" datatype="">Spinal-Bulbar Muscular Atrophy (SBMA)</a></div><div class="field-item even"><a href="/disease-name/debrancher-enzyme-deficiency" typeof="skos:Concept" property="rdfs:label skos:prefLabel" datatype="">Debrancher Enzyme Deficiency</a></div><div class="field-item odd"><a href="/disease-name/duchenne-muscular-dystrophy-dmd" typeof="skos:Concept" property="rdfs:label skos:prefLabel" datatype="">Duchenne Muscular Dystrophy (DMD)</a></div><div class="field-item even"><a href="/disease-name/myotonia-congenita-mc" typeof="skos:Concept" property="rdfs:label skos:prefLabel" datatype="">Myotonia Congenita (MC)</a></div><div class="field-item odd"><a href="/disease-name/emery-dreifuss-muscular-dystrophy-edmd" typeof="skos:Concept" property="rdfs:label skos:prefLabel" datatype="">Emery-Dreifuss Muscular Dystrophy (EDMD)</a></div><div class="field-item even"><a href="/disease-name/lactate-dehydrogenase-deficiency" typeof="skos:Concept" property="rdfs:label skos:prefLabel" datatype="">Lactate Dehydrogenase Deficiency</a></div><div class="field-item odd"><a href="/disease-name/paramyotonia-congenita" typeof="skos:Concept" property="rdfs:label skos:prefLabel" datatype="">Paramyotonia Congenita</a></div><div class="field-item even"><a href="/disease-name/facioscapulohumeral-muscular-dystrophy-fsh-or-fshd" typeof="skos:Concept" property="rdfs:label skos:prefLabel" datatype="">Facioscapulohumeral Muscular Dystrophy (FSH or FSHD)</a></div><div class="field-item odd"><a href="/disease-name/mitochondrial-myopathy" typeof="skos:Concept" property="rdfs:label skos:prefLabel" datatype="">Mitochondrial Myopathy</a></div><div class="field-item even"><a href="/disease-name/periodic-paralysis" typeof="skos:Concept" property="rdfs:label skos:prefLabel" datatype="">Periodic Paralysis</a></div><div class="field-item odd"><a href="/disease-name/limb-girdle-muscular-dystrophy-lgmd" typeof="skos:Concept" property="rdfs:label skos:prefLabel" datatype="">Limb-Girdle Muscular Dystrophy (LGMD)</a></div><div class="field-item even"><a href="/disease-name/myoadenylate-deaminase-deficiency" typeof="skos:Concept" property="rdfs:label skos:prefLabel" datatype="">Myoadenylate Deaminase Deficiency</a></div><div class="field-item odd"><a href="/disease-name/myotonic-muscular-dystrophy-mmd" typeof="skos:Concept" property="rdfs:label skos:prefLabel" datatype="">Myotonic Muscular Dystrophy (MMD)</a></div><div class="field-item even"><a href="/disease-name/phosphorylase-deficiency" typeof="skos:Concept" property="rdfs:label skos:prefLabel" datatype="">Phosphorylase Deficiency</a></div><div class="field-item odd"><a href="/disease-name/oculopharyngeal-muscular-dystrophy-opmd" typeof="skos:Concept" property="rdfs:label skos:prefLabel" datatype="">Oculopharyngeal Muscular Dystrophy (OPMD)</a></div><div class="field-item even"><a href="/disease-name/phosphofructokinase-deficiency" typeof="skos:Concept" property="rdfs:label skos:prefLabel" datatype="">Phosphofructokinase Deficiency</a></div><div class="field-item odd"><a href="/disease-name/phosphoglycerate-kinase-deficiency" typeof="skos:Concept" property="rdfs:label skos:prefLabel" datatype="">Phosphoglycerate Kinase Deficiency</a></div><div class="field-item even"><a href="/disease-name/phosphoglycerate-mutase-deficiency" typeof="skos:Concept" property="rdfs:label skos:prefLabel" datatype="">Phosphoglycerate Mutase Deficiency</a></div></div></div><div class="field field-name-field-article-link field-type-link-field field-label-above"><div class="field-label">Link:&nbsp;</div><div class="field-items"><div class="field-item even"><a href="http://quest.mda.org/news/new-guidelines-genetic-testing-children">New Guidelines on Genetic Testing in Children</a></div></div></div><div class="field field-name-field-guid field-type-number-integer field-label-above"><div class="field-label">GUID:&nbsp;</div><div class="field-items"><div class="field-item even">21 401</div></div></div><div class="field field-name-field-quest-thumbnail-url field-type-text field-label-above"><div class="field-label">Thumbnail:&nbsp;</div><div class="field-items"><div class="field-item even">/sites/default/files/researcher%20and%20test%20tube_0.jpg</div></div></div><div class="field field-name-field-article-tags field-type-taxonomy-term-reference field-label-above"><div class="field-label">Tags:&nbsp;</div><div class="field-items"><div class="field-item even"><a href="/disease/topic/diagnosis" typeof="skos:Concept" property="rdfs:label skos:prefLabel" datatype="">diagnosis</a></div><div class="field-item odd"><a href="/disease/topic/inheritance" typeof="skos:Concept" property="rdfs:label skos:prefLabel" datatype="">inheritance</a></div></div></div>Wed, 06 Mar 2013 14:15:00 +0000mdaadmindfgdg34534432255776 at http://www.mda.orgCatena for FA To Be Discontinued in Canadahttp://www.mda.org/quest/catena-fa-be-discontinued-canada
<div class="field field-name-body field-type-text-with-summary field-label-hidden"><div class="field-items"><div class="field-item even" property="content:encoded"><p>Idebenone (under the brand name Catena) in July 2008 received conditional market approval in Canada for the treatment of <strong><a href="http://www.mda.org/disease/friedreichs-ataxia/overview" target="_blank">Friedreich's ataxia (FA)</a></strong>. Now, based on additional data that fails to confirm that treatment with Catena is beneficial in FA, <a href="http://www.santhera.com/" target="_blank">Santhera Pharmaceuticals</a> has announced it will discontinue sales of the drug April 30, 2013.</p>
<p>In a <a href="http://www.santhera.com/index.php?docid=212&amp;vid=&amp;lang=en&amp;newsdate=201302&amp;newsid=1681302&amp;newslang=en" target="_blank">Feb. 27, 2013, press release</a> the company reported that no specific safety issues were identified in connection with removal of Catena from the market. It also noted that withdrawal of the drug at this time does not preclude the submission of a new application for market authorization for Catena in the future.</p>
<p>The drug is not approved for use in the United States.</p>
<h4 class="article-subhead">For more on idebenone (Catena)</h4>
<p>Idebenone was among the first antioxidant compounds to be tested in FA. (<em>Antioxidants</em> are drugs designed to offer some protection against free radical damage in cells and to enhance mitochondrial energy production by rendering free radicals harmless.)</p>
<p>Overall, it has been shown to be safe and well-tolerated in a number of phase 1, 2 and 3 human clinical trials dating back to 1999, with early trials at low doses first appearing to demonstrate the potential for idebenone to reduce FA-associated <em>cardiomyopathy</em> (heart muscle abnormality).</p>
<p>Since then, a long history of clinical trials of the drug has produced mixed results. To learn more, read:</p>
<ul><li><a href="http://quest.mda.org/news/research-briefs-bmd-dmd-edmd-fa-lgmd-opmd-pompe-disease-sma/#idebenone_trial_yields" target="_self">Idebenone Trial Yields Slightly Encouraging Results in FA</a> (Quest, May 16, 2011);</li>
<li><a href="http://quest.mda.org/series/focus-friedreichs-ataxia/idebenone-clinical-trials" target="_self">Idebenone Clinical Trials</a> (Quest, Jan. 1, 2011); and</li>
<li><a href="http://quest.mda.org/news/fa-research-idebenone-strikes-out-again" target="_self">Idebenone Strikes Out Again</a> (Quest, May 28, 2010).</li>
</ul><p>Antioxidants don't get at the molecular basis of FA; therefore, they can't cure the disease. However, it's thought that this class of drug may provide some benefit, alone or in combination, with other therapies.</p>
</div></div></div><div class="field field-name-field-article-disease field-type-taxonomy-term-reference field-label-above"><div class="field-label">Disease:&nbsp;</div><div class="field-items"><div class="field-item even"><a href="/disease-name/peripheral-neuropathies" typeof="skos:Concept" property="rdfs:label skos:prefLabel" datatype="">Peripheral Neuropathies</a></div><div class="field-item odd"><a href="/disease/friedreich%E2%80%99s-ataxia-fa" typeof="skos:Concept" property="rdfs:label skos:prefLabel" datatype="">Friedreich’s Ataxia (FA)</a></div><div class="field-item even"><a href="/disease-name/metabolic-diseases-muscle" typeof="skos:Concept" property="rdfs:label skos:prefLabel" datatype="">Metabolic Diseases of Muscle</a></div><div class="field-item odd"><a href="/disease-name/peripheral-neuropathies" typeof="skos:Concept" property="rdfs:label skos:prefLabel" datatype="">Peripheral Neuropathies</a></div></div></div><div class="field field-name-field-article-link field-type-link-field field-label-above"><div class="field-label">Link:&nbsp;</div><div class="field-items"><div class="field-item even"><a href="http://quest.mda.org/news/catena-fa-be-discontinued-canada">Catena for FA To Be Discontinued in Canada</a></div></div></div><div class="field field-name-field-guid field-type-number-integer field-label-above"><div class="field-label">GUID:&nbsp;</div><div class="field-items"><div class="field-item even">21 391</div></div></div><div class="field field-name-field-quest-thumbnail-url field-type-text field-label-above"><div class="field-label">Thumbnail:&nbsp;</div><div class="field-items"><div class="field-item even">/sites/default/files/fa_cantera-leadartV1.jpg</div></div></div><div class="field field-name-field-article-tags field-type-taxonomy-term-reference field-label-above"><div class="field-label">Tags:&nbsp;</div><div class="field-items"><div class="field-item even"><a href="/disease/topic/research" typeof="skos:Concept" property="rdfs:label skos:prefLabel" datatype="">research</a></div></div></div>Fri, 01 Mar 2013 05:00:00 +0000mdaadmindfgdg34534432255906 at http://www.mda.org